Linked Data
dbSNP Id:
rs1052586551
gnomAD v2:
8-105479162-C-A
gnomAD v3:
8-104466934-C-A
gnomAD v4:
8-104466934-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.104466934C>A , CM000670.2:g.104466934C>A | GRCh38 |
| NC_000008.10:g.105479162C>A , CM000670.1:g.105479162C>A | GRCh37 |
| NC_000008.9:g.105548338C>A | NCBI36 |
| NG_008840.1:g.5116G>T | |
| NG_008840.2:g.5116G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351513.7:c.-14G>T MANE Select | ENSP00000276651.2:n.-14G>T | |
| ENST00000351513.6:c.-14G>T | ENSP00000276651.2:n.-14G>T | |
| ENST00000521573.2:c.-14G>T | ENSP00000430246.2:n.-14G>T | |
| NM_001385.2:c.-14G>T | NP_001376.1:n.-14G>T | |
| XM_005250818.2:c.-14G>T | XP_005250875.1:n.-14G>T | |
| XM_006716518.2:c.-14G>T | XP_006716581.1:n.-14G>T | |
| XM_011516903.1:c.-14G>T | XP_011515205.1:n.-14G>T | |
| XM_011516904.1:c.-14G>T | XP_011515206.1:n.-14G>T | |
| XR_928507.1:n.112+947C>A | ||
| XM_005250818.3:c.-14G>T | XP_005250875.1:n.-14G>T | |
| XM_006716518.3:c.-14G>T | XP_006716581.1:n.-14G>T | |
| XM_011516903.3:c.-14G>T | XP_011515205.1:n.-14G>T | |
| XM_017013167.2:c.-14G>T | XP_016868656.1:n.-14G>T | |
| XM_024447087.1:c.-14G>T | XP_024302855.1:n.-14G>T | |
| XR_001745489.1:n.141G>T | ||
| XR_001745490.2:n.141G>T | ||
| XR_928507.2:n.233+947C>A | ||
| NM_001385.3:c.-14G>T MANE Select | NP_001376.1:n.-14G>T |