Linked Data
dbSNP Id:
rs550958069
ExAC:
19:7589934 A / G
gnomAD v2:
19-7589934-A-G
gnomAD v3:
19-7525048-A-G
gnomAD v4:
19-7525048-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.7525048A>G , CM000681.2:g.7525048A>G | GRCh38 |
| NC_000019.9:g.7589934A>G , CM000681.1:g.7589934A>G | GRCh37 |
| NC_000019.8:g.7495934A>G | NCBI36 |
| NG_015806.1:g.7439A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264079.11:c.119A>G MANE Select | ENSP00000264079.5:p.Asp40Gly | |
| ENST00000264079.10:c.119A>G | ENSP00000264079.5:p.Asp40Gly | |
| ENST00000394321.9:n.199A>G | ||
| ENST00000596390.1:n.235A>G | ||
| ENST00000601003.1:c.119A>G | ENSP00000469074.1:p.Asp40Gly | |
| NM_020533.2:c.119A>G | NP_065394.1:p.Asp40Gly | |
| NM_020533.3:c.119A>G MANE Select | NP_065394.1:p.Asp40Gly |