Linked Data
dbSNP Id:
rs746799783
ExAC:
19:4816785 G / A
gnomAD v2:
19-4816785-G-A
gnomAD v4:
19-4816773-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4816773G>A , CM000681.2:g.4816773G>A | GRCh38 |
| NC_000019.9:g.4816785G>A , CM000681.1:g.4816785G>A | GRCh37 |
| NC_000019.8:g.4767785G>A | NCBI36 |
| NG_031998.1:g.19970C>T , LRG_358:g.19970C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000248244.6:c.1605C>T MANE Select | ENSP00000248244.4:p.Ala535= | |
| ENST00000248244.5:c.1605C>T | ENSP00000248244.4:p.Ala535= | |
| ENST00000621756.1:c.1188C>T | ENSP00000479467.1:p.Ala396= | |
| NM_182919.3:c.1605C>T , LRG_358t1:c.1605C>T | NP_891549.1:p.Ala535= | |
| NM_001385678.1:c.1563C>T | NP_001372607.1:p.Ala521= | |
| NM_001385679.1:c.1470C>T | NP_001372608.1:p.Ala490= | |
| NM_001385680.1:c.963C>T | NP_001372609.1:p.Ala321= | |
| NM_182919.4:c.1605C>T MANE Select | NP_891549.1:p.Ala535= |