Linked Data
dbSNP Id:
rs755557676
ExAC:
2:71896209 A / G
gnomAD v2:
2-71896209-A-G
gnomAD v4:
2-71669079-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.71669079A>G , CM000664.2:g.71669079A>G | GRCh38 |
| NC_000002.11:g.71896209A>G , CM000664.1:g.71896209A>G | GRCh37 |
| NC_000002.10:g.71749717A>G | NCBI36 |
| NG_008694.1:g.220457A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698057.1:c.2961-33A>G | ENSP00000513536.1:n.2961-33A>G | |
| ENST00000698058.1:c.2178-33A>G | ENSP00000513537.1:n.2178-33A>G | |
| ENST00000698059.1:c.2286-33A>G | ENSP00000513538.1:n.2286-33A>G | |
| ENST00000258104.8:c.5430-33A>G MANE Plus Clinical | ENSP00000258104.3:n.5430-33A>G | |
| ENST00000410020.8:c.5547-33A>G MANE Select | ENSP00000386881.3:n.5547-33A>G | |
| ENST00000258104.7:c.5430-33A>G | ENSP00000258104.3:n.5430-33A>G | |
| ENST00000394120.6:c.5433-33A>G | ENSP00000377678.2:n.5433-33A>G | |
| ENST00000409366.5:c.5496-33A>G | ENSP00000386512.1:n.5496-33A>G | |
| ENST00000409582.7:c.5544-33A>G | ENSP00000386547.3:n.5544-33A>G | |
| ENST00000409651.5:c.5526-33A>G | ENSP00000386683.1:n.5526-33A>G | |
| ENST00000409744.5:c.5454-33A>G | ENSP00000386285.1:n.5454-33A>G | |
| ENST00000409762.5:c.5481-33A>G | ENSP00000387137.1:n.5481-33A>G | |
| ENST00000410020.7:c.5547-33A>G | ENSP00000386881.3:n.5547-33A>G | |
| ENST00000410041.1:c.5484-33A>G | ENSP00000386617.1:n.5484-33A>G | |
| ENST00000413539.6:c.5523-33A>G | ENSP00000407046.2:n.5523-33A>G | |
| ENST00000429174.6:c.5493-33A>G | ENSP00000398305.2:n.5493-33A>G | |
| ENST00000479049.6:n.2315-33A>G | ||
| NM_001130455.1:c.5433-33A>G | NP_001123927.1:n.5433-33A>G | |
| NM_001130976.1:c.5388-33A>G | NP_001124448.1:n.5388-33A>G | |
| NM_001130977.1:c.5451-33A>G | NP_001124449.1:n.5451-33A>G | |
| NM_001130978.1:c.5493-33A>G | NP_001124450.1:n.5493-33A>G | |
| NM_001130979.1:c.5523-33A>G | NP_001124451.1:n.5523-33A>G | |
| NM_001130980.1:c.5481-33A>G | NP_001124452.1:n.5481-33A>G | |
| NM_001130981.1:c.5544-33A>G | NP_001124453.1:n.5544-33A>G | |
| NM_001130982.1:c.5526-33A>G | NP_001124454.1:n.5526-33A>G | |
| NM_001130983.1:c.5496-33A>G | NP_001124455.1:n.5496-33A>G | |
| NM_001130984.1:c.5454-33A>G | NP_001124456.1:n.5454-33A>G | |
| NM_001130985.1:c.5484-33A>G | NP_001124457.1:n.5484-33A>G | |
| NM_001130986.1:c.5391-33A>G | NP_001124458.1:n.5391-33A>G | |
| NM_001130987.1:c.5547-33A>G | NP_001124459.1:n.5547-33A>G | |
| NM_003494.3:c.5430-33A>G | NP_003485.1:n.5430-33A>G | |
| XM_005264584.3:c.5589-33A>G | XP_005264641.1:n.5589-33A>G | |
| XM_005264585.3:c.5586-33A>G | XP_005264642.1:n.5586-33A>G | |
| XM_005264584.4:c.5589-33A>G | XP_005264641.1:n.5589-33A>G | |
| XM_005264585.5:c.5586-33A>G | XP_005264642.1:n.5586-33A>G | |
| NM_001130987.2:c.5547-33A>G MANE Select | NP_001124459.1:n.5547-33A>G | |
| NM_001130455.2:c.5433-33A>G | NP_001123927.1:n.5433-33A>G | |
| NM_001130976.2:c.5388-33A>G | NP_001124448.1:n.5388-33A>G | |
| NM_001130977.2:c.5451-33A>G | NP_001124449.1:n.5451-33A>G | |
| NM_001130978.2:c.5493-33A>G | NP_001124450.1:n.5493-33A>G | |
| NM_001130979.2:c.5523-33A>G | NP_001124451.1:n.5523-33A>G | |
| NM_001130980.2:c.5481-33A>G | NP_001124452.1:n.5481-33A>G | |
| NM_001130981.2:c.5544-33A>G | NP_001124453.1:n.5544-33A>G | |
| NM_001130982.2:c.5526-33A>G | NP_001124454.1:n.5526-33A>G | |
| NM_001130983.2:c.5496-33A>G | NP_001124455.1:n.5496-33A>G | |
| NM_001130984.2:c.5454-33A>G | NP_001124456.1:n.5454-33A>G | |
| NM_001130985.2:c.5484-33A>G | NP_001124457.1:n.5484-33A>G | |
| NM_001130986.2:c.5391-33A>G | NP_001124458.1:n.5391-33A>G | |
| NM_003494.4:c.5430-33A>G MANE Plus Clinical | NP_003485.1:n.5430-33A>G |