Linked Data
ClinVar Variation Id:
303332
dbSNP Id:
rs781748998
ExAC:
11:124793862 G / A
gnomAD v2:
11-124793862-G-A
gnomAD v3:
11-124923966-G-A
gnomAD v4:
11-124923966-G-A
COSMIC:
COSM924468
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124923966G>A , CM000673.2:g.124923966G>A | GRCh38 |
| NC_000011.9:g.124793862G>A , CM000673.1:g.124793862G>A | GRCh37 |
| NC_000011.8:g.124299072G>A | NCBI36 |
| NG_029603.1:g.17447C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000703807.1:c.472C>T | ENSP00000515485.1:p.Leu158= | |
| ENST00000298251.5:c.472C>T MANE Select | ENSP00000298251.4:p.Leu158= | |
| ENST00000298251.4:c.472C>T | ENSP00000298251.4:p.Leu158= | |
| ENST00000526273.1:n.244C>T | ||
| NM_152722.4:c.472C>T | NP_689935.2:p.Leu158= | |
| XM_005271449.1:c.472C>T | XP_005271506.1:p.Leu158= | |
| XM_006718786.1:c.472C>T | XP_006718849.1:p.Leu158= | |
| XM_011542669.1:c.472C>T | XP_011540971.1:p.Leu158= | |
| XM_005271449.2:c.472C>T | XP_005271506.1:p.Leu158= | |
| XM_017017361.1:c.472C>T | XP_016872850.1:p.Leu158= | |
| XR_001748429.2:n.325-19434G>A | ||
| NM_152722.5:c.472C>T MANE Select | NP_689935.2:p.Leu158= |