Linked Data
dbSNP Id:
rs778801425
ExAC:
8:133584532 A / C
gnomAD v2:
8-133584532-A-C
gnomAD v3:
8-132572284-A-C
gnomAD v4:
8-132572284-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572284A>C , CM000670.2:g.132572284A>C | GRCh38 |
| NC_000008.10:g.133584532A>C , CM000670.1:g.133584532A>C | GRCh37 |
| NC_000008.9:g.133653714A>C | NCBI36 |
| NG_033068.1:g.108332T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.*22T>G MANE Select | ENSP00000484634.1:n.*22T>G | |
| ENST00000250173.5:c.*287T>G | ENSP00000250173.2:n.*287T>G | |
| ENST00000518642.5:c.*287T>G | ENSP00000428610.1:n.*287T>G | |
| ENST00000519595.5:c.*22T>G | ENSP00000429791.1:n.*22T>G | |
| ENST00000522789.5:c.643T>G | ENSP00000428015.1:n.643T>G | |
| ENST00000618342.1:c.1423T>G | ENSP00000484802.1:n.1423T>G | |
| ENST00000620350.4:c.*22T>G | ENSP00000484634.1:n.*22T>G | |
| NM_012472.4:c.*22T>G | NP_036604.2:n.*22T>G | |
| NR_073525.1:n.1647T>G | ||
| XM_006716538.2:c.*22T>G | XP_006716601.2:n.*22T>G | |
| XM_011516950.1:c.*22T>G | XP_011515252.1:n.*22T>G | |
| XM_011516952.1:c.*22T>G | XP_011515254.1:n.*22T>G | |
| XM_011516953.1:c.*22T>G | XP_011515255.1:n.*22T>G | |
| XM_011516954.1:c.*22T>G | XP_011515256.1:n.*22T>G | |
| XR_428377.2:n.1675T>G | ||
| NM_001321961.1:c.*22T>G | NP_001308890.1:n.*22T>G | |
| NM_001321962.1:c.*22T>G | NP_001308891.1:n.*22T>G | |
| NM_001321963.1:c.*22T>G | NP_001308892.1:n.*22T>G | |
| NM_001321964.1:c.*22T>G | NP_001308893.1:n.*22T>G | |
| NM_001321965.1:c.*22T>G | NP_001308894.1:n.*22T>G | |
| NM_001321966.1:c.*22T>G | NP_001308895.1:n.*22T>G | |
| NM_012472.5:c.*22T>G | NP_036604.2:n.*22T>G | |
| NR_073525.2:n.1647T>G | ||
| NR_135905.1:n.1636T>G | ||
| NR_135906.1:n.1077T>G | ||
| NR_135907.1:n.1323T>G | ||
| NR_135908.1:n.1017T>G | ||
| NR_135909.1:n.1441T>G | ||
| NR_135910.1:n.1748T>G | ||
| NR_135911.1:n.1827T>G | ||
| NR_135912.1:n.2386T>G | ||
| NR_135913.1:n.2073T>G | ||
| XM_006716538.3:c.*22T>G | XP_006716601.2:n.*22T>G | |
| XM_011516950.2:c.*22T>G | XP_011515252.1:n.*22T>G | |
| XM_017013296.1:c.*22T>G | XP_016868785.1:n.*22T>G | |
| XM_017013297.1:c.*22T>G | XP_016868786.1:n.*22T>G | |
| XM_017013298.1:c.*22T>G | XP_016868787.1:n.*22T>G | |
| NM_012472.6:c.*22T>G MANE Select | NP_036604.2:n.*22T>G | |
| NM_001321961.2:c.*22T>G | NP_001308890.1:n.*22T>G | |
| NM_001321962.2:c.*22T>G | NP_001308891.1:n.*22T>G | |
| NM_001321963.2:c.*22T>G | NP_001308892.1:n.*22T>G | |
| NM_001321964.2:c.*22T>G | NP_001308893.1:n.*22T>G | |
| NM_001321965.2:c.*22T>G | NP_001308894.1:n.*22T>G | |
| NM_001321966.2:c.*22T>G | NP_001308895.1:n.*22T>G | |
| NR_073525.3:n.1575T>G | ||
| NR_135905.2:n.1564T>G | ||
| NR_135906.2:n.1005T>G | ||
| NR_135907.2:n.1251T>G | ||
| NR_135908.2:n.945T>G | ||
| NR_135909.2:n.1461T>G | ||
| NR_135910.2:n.1811T>G | ||
| NR_135911.2:n.1931T>G | ||
| NR_135912.2:n.2490T>G | ||
| NR_135913.2:n.2177T>G |