Linked Data
ClinVar Variation Id:
539155
ClinVar RCV Id:
RCV000648833
dbSNP Id:
rs1421913723
gnomAD v3:
10-119676723-T-C
gnomAD v4:
10-119676723-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.119676723T>C , CM000672.2:g.119676723T>C | GRCh38 |
| NC_000010.10:g.121436235T>C , CM000672.1:g.121436235T>C | GRCh37 |
| NC_000010.9:g.121426225T>C | NCBI36 |
| NG_016125.1:g.30354T>C , LRG_742:g.30354T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369085.8:c.1169T>C MANE Select | ENSP00000358081.4:p.Val390Ala | |
| ENST00000369085.7:c.1169T>C | ENSP00000358081.3:p.Val390Ala | |
| NM_004281.3:c.1169T>C , LRG_742t1:c.1169T>C | NP_004272.2:p.Val390Ala | |
| XM_005270287.1:c.1166T>C | XP_005270344.1:p.Val389Ala | |
| XM_005270287.2:c.1166T>C | XP_005270344.1:p.Val389Ala | |
| NM_004281.4:c.1169T>C MANE Select | NP_004272.2:p.Val390Ala |