Linked Data
ClinVar Variation Id:
556316
ClinVar RCV Id:
RCV000672309
dbSNP Id:
rs1554361015
gnomAD v4:
7-107701981-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.107701981T>C , CM000669.2:g.107701981T>C | GRCh38 |
| NC_000007.13:g.107342426T>C , CM000669.1:g.107342426T>C | GRCh37 |
| NC_000007.12:g.107129662T>C | NCBI36 |
| NG_008489.1:g.46347T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644269.2:c.1958T>C MANE Select | ENSP00000494017.1:p.Val653Ala | |
| ENST00000644846.1:c.669T>C | ||
| ENST00000265715.7:c.1958T>C | ENSP00000265715.3:p.Val653Ala | |
| ENST00000492030.2:n.245T>C | ||
| NM_000441.1:c.1958T>C | NP_000432.1:p.Val653Ala | |
| XM_005250425.1:c.1958T>C | XP_005250482.1:p.Val653Ala | |
| XM_005250425.2:c.1958T>C | XP_005250482.1:p.Val653Ala | |
| XM_017012318.1:c.1880T>C | XP_016867807.1:p.Val627Ala | |
| NM_000441.2:c.1958T>C MANE Select | NP_000432.1:p.Val653Ala |