Linked Data
ClinVar Variation Id:
2988291
ClinVar RCV Id:
RCV003844474
dbSNP Id:
rs1340434125
gnomAD v2:
11-124508511-G-A
gnomAD v4:
11-124638615-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.124638615G>A , CM000673.2:g.124638615G>A | GRCh38 |
| NC_000011.9:g.124508511G>A , CM000673.1:g.124508511G>A | GRCh37 |
| NC_000011.8:g.124013721G>A | NCBI36 |
| NG_028132.1:g.42689C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263593.8:c.1247C>T MANE Select | ENSP00000263593.3:p.Ala416Val | |
| ENST00000263593.7:c.1247C>T | ENSP00000263593.3:p.Ala416Val | |
| ENST00000545756.5:c.1142C>T | ENSP00000437877.1:p.Ala381Val | |
| ENST00000618733.4:c.1142C>T | ENSP00000478211.1:p.Ala381Val | |
| NM_001199922.1:c.1142C>T | NP_001186851.1:p.Ala381Val | |
| NM_170601.4:c.1247C>T | NP_733746.1:p.Ala416Val | |
| XM_011542874.1:c.674C>T | XP_011541176.1:p.Ala225Val | |
| XM_017017930.1:c.674C>T | XP_016873419.1:p.Ala225Val | |
| NM_170601.5:c.1247C>T MANE Select | NP_733746.1:p.Ala416Val | |
| NM_001199922.2:c.1142C>T | NP_001186851.1:p.Ala381Val |