ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v4:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.158612819G>A , CM000663.2:g.158612819G>A | GRCh38 |
| NC_000001.10:g.158582609G>A , CM000663.1:g.158582609G>A | GRCh37 |
| NC_000001.9:g.156849233G>A | NCBI36 |
| NG_011474.1:g.78898C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000643759.2:c.7132C>T MANE Select | ENSP00000495214.1:p.Gln2378Ter | |
| ENST00000368147.8:c.7132C>T | ENSP00000357129.4:p.Gln2378Ter | |
| ENST00000481212.5:n.573C>T | ||
| ENST00000498708.1:n.564C>T | ||
| ENST00000614909.4:c.7132C>T | ENSP00000482595.1:p.Gln2378Ter | |
| NM_003126.2:c.7132C>T | NP_003117.2:p.Gln2378Ter | |
| XM_011509916.1:c.7132C>T | XP_011508218.1:p.Gln2378Ter | |
| XM_011509917.1:c.7114C>T | XP_011508219.1:p.Gln2372Ter | |
| NM_003126.3:c.7132C>T | NP_003117.2:p.Gln2378Ter | |
| XM_011509916.2:c.7132C>T | XP_011508218.1:p.Gln2378Ter | |
| XM_011509917.3:c.7114C>T | XP_011508219.1:p.Gln2372Ter | |
| NM_003126.4:c.7132C>T MANE Select | NP_003117.2:p.Gln2378Ter |