Linked Data
ClinVar Variation Id:
35480
dbSNP Id:
rs80356681
ExAC:
1:209806023 G / A
gnomAD v2:
1-209806023-G-A
gnomAD v3:
1-209632678-G-A
gnomAD v4:
1-209632678-G-A
PubMed:
PMID:20301304
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.209632678G>A , CM000663.2:g.209632678G>A | GRCh38 |
| NC_000001.10:g.209806023G>A , CM000663.1:g.209806023G>A | GRCh37 |
| NC_000001.9:g.207872646G>A | NCBI36 |
| NG_007116.1:g.24798C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356082.9:c.727C>T MANE Select | ENSP00000348384.3:p.Gln243Ter | |
| ENST00000356082.8:c.727C>T | ENSP00000348384.3:p.Gln243Ter | |
| ENST00000367030.7:c.727C>T | ENSP00000355997.3:p.Gln243Ter | |
| ENST00000391911.5:c.727C>T | ENSP00000375778.1:p.Gln243Ter | |
| NM_000228.2:c.727C>T | NP_000219.2:p.Gln243Ter | |
| NM_001017402.1:c.727C>T | NP_001017402.1:p.Gln243Ter | |
| NM_001127641.1:c.727C>T | NP_001121113.1:p.Gln243Ter | |
| XM_005273124.3:c.727C>T | XP_005273181.1:p.Gln243Ter | |
| XM_005273124.4:c.727C>T | XP_005273181.1:p.Gln243Ter | |
| XM_017001272.2:c.535C>T | XP_016856761.1:p.Gln179Ter | |
| NM_000228.3:c.727C>T MANE Select | NP_000219.2:p.Gln243Ter | |
| NM_001017402.2:c.727C>T | NP_001017402.1:p.Gln243Ter |