Linked Data
dbSNP Id:
rs12500579
gnomAD v2:
4-113855477-C-G
gnomAD v3:
4-112934321-C-G
gnomAD v4:
4-112934321-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.112934321C>G , CM000666.2:g.112934321C>G | GRCh38 |
| NC_000004.11:g.113855477C>G , CM000666.1:g.113855477C>G | GRCh37 |
| NC_000004.10:g.114074926C>G | NCBI36 |
| NG_009006.2:g.121239C>G , LRG_327:g.121239C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000682189.1:n.221+29807C>G | ||
| ENST00000683070.1:n.220+29807C>G | ||
| ENST00000683310.1:n.220+29807C>G | ||
| ENST00000683360.1:n.221+29807C>G | ||
| ENST00000683464.1:n.261+29807C>G | ||
| ENST00000684681.1:n.169+29807C>G | ||
| ENST00000684727.1:n.118+29807C>G | ||
| ENST00000503423.6:c.21+29807C>G | ENSP00000421011.2:n.21+29807C>G | |
| ENST00000671704.1:c.21+29807C>G | ENSP00000500926.1:n.21+29807C>G | |
| ENST00000671756.1:c.21+29807C>G | ENSP00000500712.1:n.21+29807C>G | |
| ENST00000671793.1:c.21+29807C>G | ENSP00000499928.1:n.21+29807C>G | |
| ENST00000671809.1:c.21+29807C>G | ENSP00000500872.1:n.21+29807C>G | |
| ENST00000671825.1:c.21+29807C>G | ENSP00000500459.1:n.21+29807C>G | |
| ENST00000671854.1:c.21+29807C>G | ENSP00000500833.1:n.21+29807C>G | |
| ENST00000671863.1:c.21+29807C>G | ENSP00000500855.1:n.21+29807C>G | |
| ENST00000671893.1:c.21+29807C>G | ENSP00000499986.1:n.21+29807C>G | |
| ENST00000671906.1:c.21+29807C>G | ENSP00000499953.1:n.21+29807C>G | |
| ENST00000671951.1:c.21+29807C>G | ENSP00000500528.1:n.21+29807C>G | |
| ENST00000672068.1:c.21+29807C>G | ENSP00000499902.1:n.21+29807C>G | |
| ENST00000672088.1:c.21+29807C>G | ENSP00000499837.1:n.21+29807C>G | |
| ENST00000672090.1:c.21+29807C>G | ENSP00000500540.1:n.21+29807C>G | |
| ENST00000672177.1:c.21+29807C>G | ENSP00000500918.1:n.21+29807C>G | |
| ENST00000672209.1:c.21+29807C>G | ENSP00000499982.1:n.21+29807C>G | |
| ENST00000672221.1:c.21+29807C>G | ENSP00000500473.1:n.21+29807C>G | |
| ENST00000672246.1:c.21+29807C>G | ENSP00000499990.1:n.21+29807C>G | |
| ENST00000672312.1:c.21+29807C>G | ENSP00000500378.1:n.21+29807C>G | |
| ENST00000672315.1:c.21+29807C>G | ENSP00000500780.1:n.21+29807C>G | |
| ENST00000672350.1:c.21+29807C>G | ENSP00000500420.1:n.21+29807C>G | |
| ENST00000672356.1:c.21+29807C>G | ENSP00000500544.1:n.21+29807C>G | |
| ENST00000672362.1:c.21+29807C>G | ENSP00000500522.1:n.21+29807C>G | |
| ENST00000672402.1:c.21+29807C>G | ENSP00000500881.1:n.21+29807C>G | |
| ENST00000672684.1:c.21+29807C>G | ENSP00000499943.1:n.21+29807C>G | |
| ENST00000672696.1:c.21+29807C>G | ENSP00000499828.1:n.21+29807C>G | |
| ENST00000672731.1:c.21+29807C>G | ENSP00000500908.1:n.21+29807C>G | |
| ENST00000672759.1:c.21+29807C>G | ENSP00000499881.1:n.21+29807C>G | |
| ENST00000672793.1:c.21+29807C>G | ENSP00000500150.1:n.21+29807C>G | |
| ENST00000672830.1:c.21+29807C>G | ENSP00000500222.1:n.21+29807C>G | |
| ENST00000672880.1:c.21+29807C>G | ENSP00000500866.1:n.21+29807C>G | |
| ENST00000672930.1:c.21+29807C>G | ENSP00000499913.1:n.21+29807C>G | |
| ENST00000672934.1:c.21+29807C>G | ENSP00000500645.1:n.21+29807C>G | |
| ENST00000672955.1:c.21+29807C>G | ENSP00000500527.1:n.21+29807C>G | |
| ENST00000672965.1:c.21+29807C>G | ENSP00000499891.1:n.21+29807C>G | |
| ENST00000672986.1:c.21+29807C>G | ENSP00000499967.1:n.21+29807C>G | |
| ENST00000672990.1:c.21+29807C>G | ENSP00000500275.1:n.21+29807C>G | |
| ENST00000673044.1:c.21+29807C>G | ENSP00000500933.1:n.21+29807C>G | |
| ENST00000673109.1:c.21+29807C>G | ENSP00000500265.1:n.21+29807C>G | |
| ENST00000673255.1:c.21+29807C>G | ENSP00000500423.1:n.21+29807C>G | |
| ENST00000673298.1:c.21+29807C>G | ENSP00000500245.1:n.21+29807C>G | |
| ENST00000673334.1:c.21+29807C>G | ENSP00000500854.1:n.21+29807C>G | |
| ENST00000673430.1:c.21+29807C>G | ENSP00000500269.1:n.21+29807C>G | |
| ENST00000673453.1:c.21+29807C>G | ENSP00000500112.1:n.21+29807C>G | |
| ENST00000673536.1:c.-432-14784C>G | ENSP00000500524.1:n.-432-14784C>G | |
| ENST00000673546.1:c.21+29807C>G | ENSP00000500843.1:n.21+29807C>G | |
| ENST00000673555.1:c.21+29807C>G | ENSP00000500947.1:n.21+29807C>G | |
| ENST00000673573.1:c.21+29807C>G | ENSP00000500883.1:n.21+29807C>G | |
| ENST00000503271.5:c.21+29807C>G | ENSP00000423799.1:n.21+29807C>G | |
| ENST00000503423.5:c.21+29807C>G | ENSP00000421011.1:n.21+29807C>G | |
| ENST00000506722.5:c.21+29807C>G | ENSP00000421067.1:n.21+29807C>G | |
| NM_001127493.1:c.21+29807C>G , LRG_327t2:c.21+29807C>G | NP_001120965.1:n.21+29807C>G | |
| XM_011531891.1:c.21+29807C>G | XP_011530193.1:n.21+29807C>G | |
| NM_001127493.2:c.21+29807C>G | NP_001120965.1:n.21+29807C>G | |
| NM_001354239.1:c.21+29807C>G | NP_001341168.1:n.21+29807C>G | |
| NM_001354243.1:c.21+29807C>G | NP_001341172.1:n.21+29807C>G | |
| NM_001354244.1:c.21+29807C>G | NP_001341173.1:n.21+29807C>G | |
| NM_001354249.1:c.21+29807C>G | NP_001341178.1:n.21+29807C>G | |
| NM_001354252.1:c.21+29807C>G | NP_001341181.1:n.21+29807C>G | |
| NM_001354253.1:c.21+29807C>G | NP_001341182.1:n.21+29807C>G | |
| NM_001354254.1:c.21+29807C>G | NP_001341183.1:n.21+29807C>G | |
| NM_001354255.1:c.21+29807C>G | NP_001341184.1:n.21+29807C>G | |
| NM_001354256.1:c.21+29807C>G | NP_001341185.1:n.21+29807C>G | |
| NM_001354257.1:c.21+29807C>G | NP_001341186.1:n.21+29807C>G | |
| NM_001354260.1:c.21+29807C>G | NP_001341189.1:n.21+29807C>G | |
| NM_001354261.1:c.21+29807C>G | NP_001341190.1:n.21+29807C>G | |
| NM_001354262.1:c.21+29807C>G | NP_001341191.1:n.21+29807C>G | |
| NM_001354264.1:c.21+29807C>G | NP_001341193.1:n.21+29807C>G | |
| NM_001354266.1:c.21+29807C>G | NP_001341195.1:n.21+29807C>G | |
| NM_001354267.1:c.21+29807C>G | NP_001341196.1:n.21+29807C>G | |
| NM_001354269.1:c.72+228104C>G | NP_001341198.1:n.72+228104C>G | |
| NM_001354270.1:c.21+29807C>G | NP_001341199.1:n.21+29807C>G | |
| NM_001354271.1:c.21+29807C>G | NP_001341200.1:n.21+29807C>G | |
| NM_001354272.1:c.21+29807C>G | NP_001341201.1:n.21+29807C>G | |
| NM_001354274.1:c.21+29807C>G | NP_001341203.1:n.21+29807C>G | |
| NM_001354275.1:c.21+29807C>G | NP_001341204.1:n.21+29807C>G | |
| NM_001354276.1:c.21+29807C>G | NP_001341205.1:n.21+29807C>G | |
| NM_001354277.1:c.21+29807C>G | NP_001341206.1:n.21+29807C>G | |
| XM_017008071.2:c.21+29807C>G | XP_016863560.1:n.21+29807C>G | |
| XM_017008072.2:c.21+29807C>G | XP_016863561.1:n.21+29807C>G | |
| XM_017008074.2:c.21+29807C>G | XP_016863563.1:n.21+29807C>G | |
| XM_017008075.2:c.21+29807C>G | XP_016863564.1:n.21+29807C>G | |
| XM_017008077.2:c.21+29807C>G | XP_016863566.1:n.21+29807C>G | |
| XM_017008080.2:c.21+29807C>G | XP_016863569.1:n.21+29807C>G | |
| NM_001127493.3:c.21+29807C>G | NP_001120965.1:n.21+29807C>G | |
| NM_001354239.2:c.21+29807C>G | NP_001341168.1:n.21+29807C>G | |
| NM_001354243.2:c.21+29807C>G | NP_001341172.1:n.21+29807C>G | |
| NM_001354244.2:c.21+29807C>G | NP_001341173.1:n.21+29807C>G | |
| NM_001354249.2:c.21+29807C>G | NP_001341178.1:n.21+29807C>G | |
| NM_001354252.2:c.21+29807C>G | NP_001341181.1:n.21+29807C>G | |
| NM_001354253.2:c.21+29807C>G | NP_001341182.1:n.21+29807C>G | |
| NM_001354254.2:c.21+29807C>G | NP_001341183.1:n.21+29807C>G | |
| NM_001354255.2:c.21+29807C>G | NP_001341184.1:n.21+29807C>G | |
| NM_001354256.2:c.21+29807C>G | NP_001341185.1:n.21+29807C>G | |
| NM_001354257.2:c.21+29807C>G | NP_001341186.1:n.21+29807C>G | |
| NM_001354260.2:c.21+29807C>G | NP_001341189.1:n.21+29807C>G | |
| NM_001354261.2:c.21+29807C>G | NP_001341190.1:n.21+29807C>G | |
| NM_001354262.2:c.21+29807C>G | NP_001341191.1:n.21+29807C>G | |
| NM_001354264.2:c.21+29807C>G | NP_001341193.1:n.21+29807C>G | |
| NM_001354266.2:c.21+29807C>G | NP_001341195.1:n.21+29807C>G | |
| NM_001354267.2:c.21+29807C>G | NP_001341196.1:n.21+29807C>G | |
| NM_001354269.3:c.72+228104C>G | NP_001341198.1:n.72+228104C>G | |
| NM_001354270.2:c.21+29807C>G | NP_001341199.1:n.21+29807C>G | |
| NM_001354271.2:c.21+29807C>G | NP_001341200.1:n.21+29807C>G | |
| NM_001354272.2:c.21+29807C>G | NP_001341201.1:n.21+29807C>G | |
| NM_001354274.2:c.21+29807C>G | NP_001341203.1:n.21+29807C>G | |
| NM_001354275.2:c.21+29807C>G | NP_001341204.1:n.21+29807C>G | |
| NM_001354276.2:c.21+29807C>G | NP_001341205.1:n.21+29807C>G | |
| NM_001354277.2:c.21+29807C>G | NP_001341206.1:n.21+29807C>G | |
| NM_001386142.1:c.21+29807C>G | NP_001373071.1:n.21+29807C>G | |
| NM_001386143.1:c.21+29807C>G | NP_001373072.1:n.21+29807C>G | |
| NM_001386146.1:c.21+29807C>G | NP_001373075.1:n.21+29807C>G | |
| NM_001386147.1:c.21+29807C>G | NP_001373076.1:n.21+29807C>G | |
| NM_001386148.2:c.72+228104C>G | NP_001373077.1:n.72+228104C>G | |
| NM_001386149.1:c.21+29807C>G | NP_001373078.1:n.21+29807C>G | |
| NM_001386150.1:c.21+29807C>G | NP_001373079.1:n.21+29807C>G | |
| NM_001386151.1:c.21+29807C>G | NP_001373080.1:n.21+29807C>G | |
| NM_001386153.1:c.21+29807C>G | NP_001373082.1:n.21+29807C>G | |
| NM_001386154.1:c.21+29807C>G | NP_001373083.1:n.21+29807C>G | |
| NM_001386156.1:c.21+29807C>G | NP_001373085.1:n.21+29807C>G | |
| NM_001386157.1:c.21+29807C>G | NP_001373086.1:n.21+29807C>G | |
| NM_001386158.1:c.21+29807C>G | NP_001373087.1:n.21+29807C>G | |
| NM_001386160.1:c.21+29807C>G | NP_001373089.1:n.21+29807C>G | |
| NM_001386161.1:c.21+29807C>G | NP_001373090.1:n.21+29807C>G | |
| NM_001386162.1:c.21+29807C>G | NP_001373091.1:n.21+29807C>G | |
| NM_001386186.2:c.72+228104C>G | NP_001373115.1:n.72+228104C>G | |
| NM_001386187.2:c.72+228104C>G | NP_001373116.1:n.72+228104C>G |