Linked Data
ClinVar Variation Id:
465855
dbSNP Id:
rs756786529
ExAC:
17:4802570 G / A
gnomAD v2:
17-4802570-G-A
gnomAD v3:
17-4899275-G-A
gnomAD v4:
17-4899275-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899275G>A , CM000679.2:g.4899275G>A | GRCh38 |
| NC_000017.10:g.4802570G>A , CM000679.1:g.4802570G>A | GRCh37 |
| NC_000017.9:g.4743349G>A | NCBI36 |
| NG_008029.2:g.8801C>T | |
| NG_028005.1:g.70936G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1142C>T MANE Select | ENSP00000497829.1:p.Ala381Val | |
| ENST00000649830.1:c.209C>T | ENSP00000496907.1:p.Ala70Val | |
| ENST00000652550.1:n.872C>T | ||
| ENST00000293780.4:c.1142C>T | ENSP00000293780.4:p.Ala381Val | |
| ENST00000572438.1:n.828C>T | ||
| NM_000080.3:c.1142C>T | NP_000071.1:p.Ala381Val | |
| NM_000080.4:c.1142C>T MANE Select | NP_000071.1:p.Ala381Val | |
| XM_017024115.1:c.1106C>T | XP_016879604.1:p.Ala369Val |