Linked Data
ClinVar Variation Id:
161535
ClinVar RCV Id:
RCV000149070
dbSNP Id:
rs193920798
ExAC:
9:112199206 G / A
gnomAD v2:
9-112199206-G-A
gnomAD v3:
9-109436926-G-A
gnomAD v4:
9-109436926-G-A
COSMIC:
COSM1179308
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.109436926G>A , CM000671.2:g.109436926G>A | GRCh38 |
| NC_000009.11:g.112199206G>A , CM000671.1:g.112199206G>A | GRCh37 |
| NC_000009.10:g.111239027G>A | NCBI36 |
| NG_047071.1:g.106428C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374541.4:c.632C>T MANE Select | ENSP00000363667.1:p.Ala211Val | |
| ENST00000262539.7:c.632C>T | ENSP00000262539.4:p.Ala211Val | |
| ENST00000374541.3:c.632C>T | ENSP00000363667.1:p.Ala211Val | |
| ENST00000412145.5:c.239C>T | ENSP00000416654.1:p.Ala80Val | |
| ENST00000446349.5:c.239C>T | ENSP00000395384.1:p.Ala80Val | |
| NM_001145368.1:c.632C>T | NP_001138840.1:p.Ala211Val | |
| NM_001145369.1:c.239C>T | NP_001138841.1:p.Ala80Val | |
| NM_001145370.1:c.239C>T | NP_001138842.1:p.Ala80Val | |
| NM_002829.3:c.632C>T | NP_002820.3:p.Ala211Val | |
| XM_006717197.2:c.665C>T | XP_006717260.1:p.Ala222Val | |
| XM_006717199.2:c.632C>T | XP_006717262.1:p.Ala211Val | |
| XM_006717201.2:c.305C>T | XP_006717264.1:p.Ala102Val | |
| XM_006717202.2:c.287C>T | XP_006717265.1:p.Ala96Val | |
| XM_006717203.2:c.287C>T | XP_006717266.1:p.Ala96Val | |
| XM_006717204.2:c.239C>T | XP_006717267.1:p.Ala80Val | |
| XM_011518888.1:c.695C>T | XP_011517190.1:p.Ala232Val | |
| XM_011518889.1:c.632C>T | XP_011517191.1:p.Ala211Val | |
| XM_011518890.1:c.695C>T | XP_011517192.1:p.Ala232Val | |
| XM_006717197.3:c.665C>T | XP_006717260.1:p.Ala222Val | |
| XM_006717199.3:c.632C>T | XP_006717262.1:p.Ala211Val | |
| XM_006717201.3:c.305C>T | XP_006717264.1:p.Ala102Val | |
| XM_006717202.3:c.287C>T | XP_006717265.1:p.Ala96Val | |
| XM_006717203.4:c.287C>T | XP_006717266.1:p.Ala96Val | |
| XM_006717204.3:c.239C>T | XP_006717267.1:p.Ala80Val | |
| XM_011518888.2:c.695C>T | XP_011517190.1:p.Ala232Val | |
| XM_011518889.2:c.632C>T | XP_011517191.1:p.Ala211Val | |
| XM_017014955.1:c.632C>T | XP_016870444.1:p.Ala211Val | |
| XM_017014956.1:c.305C>T | XP_016870445.1:p.Ala102Val | |
| XM_017014957.1:c.239C>T | XP_016870446.1:p.Ala80Val | |
| NM_002829.4:c.632C>T MANE Select | NP_002820.3:p.Ala211Val | |
| NM_001145368.2:c.632C>T | NP_001138840.1:p.Ala211Val | |
| NM_001145369.2:c.239C>T | NP_001138841.1:p.Ala80Val | |
| NM_001145370.2:c.239C>T | NP_001138842.1:p.Ala80Val |