Linked Data
dbSNP Id:
rs769405251
ExAC:
19:615986 G / A
gnomAD v2:
19-615986-G-A
gnomAD v4:
19-615986-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.615986G>A , CM000681.2:g.615986G>A | GRCh38 |
| NC_000019.9:g.615986G>A , CM000681.1:g.615986G>A | GRCh37 |
| NC_000019.8:g.566986G>A | NCBI36 |
| NG_023049.1:g.22583C>T | |
| NG_052810.1:g.31094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251287.3:c.2182G>A MANE Select | ENSP00000251287.1:p.Ala728Thr | |
| ENST00000251287.2:c.2182G>A | ENSP00000251287.1:p.Ala728Thr | |
| NM_001194.3:c.2182G>A | NP_001185.3:p.Ala728Thr | |
| NM_001194.4:c.2182G>A MANE Select | NP_001185.3:p.Ala728Thr |