Linked Data
ClinVar Variation Id:
402338
ClinVar RCV Id:
RCV000454558
dbSNP Id:
rs78661149
ExAC:
7:149983566 G / A
gnomAD v2:
7-149983566-G-A
gnomAD v3:
7-150286477-G-A
gnomAD v4:
7-150286477-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150286477G>A , CM000669.2:g.150286477G>A | GRCh38 |
| NC_000007.13:g.149983566G>A , CM000669.1:g.149983566G>A | GRCh37 |
| NC_000007.12:g.149614499G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683684.1:c.361C>T MANE Select | ENSP00000507618.1:p.Gln121Ter | |
| ENST00000252071.8:c.361C>T | ENSP00000252071.4:p.Gln121Ter | |
| ENST00000477871.1:c.658C>T | ENSP00000418635.1:p.Gln220Ter | |
| ENST00000478393.5:c.355C>T | ENSP00000417426.1:p.Gln119Ter | |
| ENST00000539352.5:c.361C>T | ENSP00000440990.2:p.Gln121Ter | |
| NM_001164458.1:c.361C>T | NP_001157930.1:p.Gln121Ter | |
| NM_001164459.1:c.361C>T | NP_001157931.1:p.Gln121Ter | |
| XM_005250043.3:c.361C>T | XP_005250100.3:p.Gln121Ter | |
| XM_011516502.1:c.361C>T | XP_011514804.1:p.Gln121Ter | |
| XM_011516503.1:c.361C>T | XP_011514805.1:p.Gln121Ter | |
| XM_011516504.1:c.361C>T | XP_011514806.1:p.Gln121Ter | |
| XM_011516505.1:c.361C>T | XP_011514807.1:p.Gln121Ter | |
| XM_011516506.1:c.361C>T | XP_011514808.1:p.Gln121Ter | |
| XM_011516507.1:c.361C>T | XP_011514809.1:p.Gln121Ter | |
| XM_011516508.1:c.361C>T | XP_011514810.1:p.Gln121Ter | |
| XM_011516509.1:c.361C>T | XP_011514811.1:p.Gln121Ter | |
| XM_011516510.1:c.361C>T | XP_011514812.1:p.Gln121Ter | |
| XM_011516511.1:c.361C>T | XP_011514813.1:p.Gln121Ter | |
| XM_011516512.1:c.361C>T | XP_011514814.1:p.Gln121Ter | |
| XM_011516513.1:c.361C>T | XP_011514815.1:p.Gln121Ter | |
| XM_011516514.1:c.361C>T | XP_011514816.1:p.Gln121Ter | |
| XR_927516.1:n.504C>T | ||
| NM_001351028.1:c.-181C>T | NP_001337957.1:n.-181C>T | |
| NR_147012.1:n.514C>T | ||
| NR_147013.1:n.451C>T | ||
| XM_005250043.4:c.361C>T | XP_005250100.3:p.Gln121Ter | |
| XM_011516502.2:c.361C>T | XP_011514804.1:p.Gln121Ter | |
| XM_011516506.3:c.361C>T | XP_011514808.1:p.Gln121Ter | |
| XM_011516507.2:c.361C>T | XP_011514809.1:p.Gln121Ter | |
| XM_011516508.2:c.361C>T | XP_011514810.1:p.Gln121Ter | |
| XM_011516511.3:c.361C>T | XP_011514813.1:p.Gln121Ter | |
| XM_017012548.1:c.361C>T | XP_016868037.1:p.Gln121Ter | |
| XM_017012549.1:c.361C>T | XP_016868038.1:p.Gln121Ter | |
| XM_017012550.2:c.-181C>T | XP_016868039.2:n.-181C>T | |
| XM_024446879.1:c.361C>T | XP_024302647.1:p.Gln121Ter | |
| XM_024446880.1:c.361C>T | XP_024302648.1:p.Gln121Ter | |
| XM_024446881.1:c.-181C>T | XP_024302649.1:n.-181C>T | |
| NM_001351028.2:c.-181C>T | NP_001337957.1:n.-181C>T | |
| NR_147012.2:n.390C>T | ||
| NR_147013.2:n.327C>T | ||
| NM_001164458.2:c.361C>T MANE Select | NP_001157930.1:p.Gln121Ter | |
| NM_001164459.2:c.361C>T | NP_001157931.1:p.Gln121Ter |