Linked Data
dbSNP Id:
rs11744876
gnomAD v2:
5-11084712-G-A
gnomAD v3:
5-11084600-G-A
gnomAD v4:
5-11084600-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.11084600G>A , CM000667.2:g.11084600G>A | GRCh38 |
| NC_000005.9:g.11084712G>A , CM000667.1:g.11084712G>A | GRCh37 |
| NC_000005.8:g.11137712G>A | NCBI36 |
| NG_023544.1:g.824399C>T | |
| NG_023544.2:g.824399C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706271.1:c.1627-645C>T | ENSP00000516315.1:n.1627-645C>T | |
| ENST00000706272.1:c.1710-645C>T | ||
| ENST00000304623.13:c.2638-1754C>T MANE Select | ENSP00000307134.8:n.2638-1754C>T | |
| ENST00000304623.12:c.2638-1754C>T | ENSP00000307134.8:n.2638-1754C>T | |
| ENST00000458100.6:c.-76-1754C>T | ENSP00000391155.3:n.-76-1754C>T | |
| ENST00000495388.6:n.1723-1754C>T | ||
| ENST00000503622.5:c.1627-1754C>T | ENSP00000426887.1:n.1627-1754C>T | |
| ENST00000504499.5:c.*1377-1754C>T | ENSP00000421000.1:n.*1377-1754C>T | |
| ENST00000511377.5:c.2365-1754C>T | ENSP00000426510.1:n.2365-1754C>T | |
| ENST00000513588.5:c.1900-645C>T | ENSP00000421093.1:n.1900-645C>T | |
| NM_001288715.1:c.2365-1754C>T | NP_001275644.1:n.2365-1754C>T | |
| NM_001288716.1:c.1627-1754C>T | NP_001275645.1:n.1627-1754C>T | |
| NM_001288717.1:c.1339-1754C>T | NP_001275646.1:n.1339-1754C>T | |
| NM_001332.3:c.2638-1754C>T | NP_001323.1:n.2638-1754C>T | |
| NR_109988.1:n.2090-645C>T | ||
| XM_005248251.2:c.2638-645C>T | XP_005248308.1:n.2638-645C>T | |
| XM_005248252.1:c.2596-645C>T | XP_005248309.1:n.2596-645C>T | |
| XM_005248253.1:c.2365-645C>T | XP_005248310.1:n.2365-645C>T | |
| XM_011513967.1:c.2365-645C>T | XP_011512269.1:n.2365-645C>T | |
| NM_001364128.1:c.1627-645C>T | NP_001351057.1:n.1627-645C>T | |
| XM_005248251.3:c.2638-645C>T | XP_005248308.1:n.2638-645C>T | |
| XM_005248252.2:c.2596-645C>T | XP_005248309.1:n.2596-645C>T | |
| XM_011513967.2:c.2365-645C>T | XP_011512269.1:n.2365-645C>T | |
| XM_017009072.1:c.1900-645C>T | XP_016864561.1:n.1900-645C>T | |
| XM_017009073.1:c.1858-645C>T | XP_016864562.1:n.1858-645C>T | |
| XM_017009074.1:c.1900-1754C>T | XP_016864563.1:n.1900-1754C>T | |
| XM_017009075.2:c.1627-645C>T | XP_016864564.1:n.1627-645C>T | |
| XM_024454368.1:c.967-1754C>T | XP_024310136.1:n.967-1754C>T | |
| NM_001332.4:c.2638-1754C>T MANE Select | NP_001323.1:n.2638-1754C>T | |
| NM_001288717.2:c.1339-1754C>T | NP_001275646.1:n.1339-1754C>T | |
| NR_109988.2:n.2493-645C>T | ||
| NM_001364128.2:c.1627-645C>T | NP_001351057.1:n.1627-645C>T |