Linked Data
dbSNP Id:
rs749239793
ExAC:
19:6685135 G / A
gnomAD v2:
19-6685135-G-A
gnomAD v4:
19-6685124-G-A
COSMIC:
COSM3540995
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6685124G>A , CM000681.2:g.6685124G>A | GRCh38 |
| NC_000019.9:g.6685135G>A , CM000681.1:g.6685135G>A | GRCh37 |
| NC_000019.8:g.6636135G>A | NCBI36 |
| NG_009557.1:g.40528C>T , LRG_27:g.40528C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000695651.1:n.2181C>T | ||
| ENST00000695653.1:c.1742C>T | ENSP00000512084.1:p.Ala581Val | |
| ENST00000695654.1:c.2858C>T | ENSP00000512085.1:p.Ala953Val | |
| ENST00000695690.1:n.24C>T | ||
| ENST00000695691.1:n.24C>T | ||
| ENST00000245907.11:c.3833C>T MANE Select | ENSP00000245907.4:p.Ala1278Val | |
| ENST00000245907.10:c.3833C>T | ENSP00000245907.4:p.Ala1278Val | |
| ENST00000596238.1:n.276C>T | ||
| ENST00000601008.1:c.241+1622C>T | ENSP00000471384.1:n.241+1622C>T | |
| NM_000064.3:c.3833C>T | NP_000055.2:p.Ala1278Val | |
| NM_000064.4:c.3833C>T MANE Select | NP_000055.2:p.Ala1278Val |