Linked Data
ClinVar Variation Id:
1015538
ClinVar RCV Id:
RCV001314418
dbSNP Id:
rs1402295663
gnomAD v2:
2-55870323-G-A
gnomAD v3:
2-55643188-G-A
gnomAD v4:
2-55643188-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.55643188G>A , CM000664.2:g.55643188G>A | GRCh38 |
| NC_000002.11:g.55870323G>A , CM000664.1:g.55870323G>A | GRCh37 |
| NC_000002.10:g.55723827G>A | NCBI36 |
| NG_033012.1:g.55723C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000447944.7:c.2039C>T MANE Select | ENSP00000400646.2:p.Ala680Val | |
| ENST00000260604.8:c.*1581C>T | ENSP00000260604.4:n.*1581C>T | |
| ENST00000415374.5:c.2039C>T | ENSP00000393953.1:p.Ala680Val | |
| ENST00000447944.6:c.2039C>T | ENSP00000400646.2:p.Ala680Val | |
| ENST00000481066.1:n.1101C>T | ||
| NM_033109.4:c.2039C>T | NP_149100.2:p.Ala680Val | |
| XM_005264629.1:c.1799C>T | XP_005264686.1:p.Ala600Val | |
| XM_005264629.2:c.1799C>T | XP_005264686.1:p.Ala600Val | |
| XM_017005172.1:c.1799C>T | XP_016860661.1:p.Ala600Val | |
| NM_033109.5:c.2039C>T MANE Select | NP_149100.2:p.Ala680Val |