Linked Data
dbSNP Id:
rs6582584
ExAC:
12:38712142 C / G
gnomAD v2:
12-38712142-C-G
gnomAD v3:
12-38318340-C-G
gnomAD v4:
12-38318340-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.38318340C>G , CM000674.2:g.38318340C>G | GRCh38 |
| NC_000012.11:g.38712142C>G , CM000674.1:g.38712142C>G | GRCh37 |
| NC_000012.10:g.36998409C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000308742.9:c.251C>G MANE Select | ENSP00000310120.4:p.Ala84Gly | |
| ENST00000308742.8:c.251C>G | ENSP00000310120.4:p.Ala84Gly | |
| ENST00000548240.1:c.225C>G | ENSP00000449210.1:p.Cys75Trp | |
| ENST00000551464.1:c.251C>G | ENSP00000448819.1:p.Ala84Gly | |
| ENST00000553138.1:n.1574C>G | ||
| XM_005268665.3:c.71C>G | XP_005268722.1:p.Ala24Gly | |
| XM_006719243.2:c.71C>G | XP_006719306.1:p.Ala24Gly | |
| XM_005268665.4:c.71C>G | XP_005268722.1:p.Ala24Gly | |
| NM_001013620.4:c.251C>G MANE Select | NP_001013642.2:p.Ala84Gly | |
| NM_001308340.2:c.251C>G | NP_001295269.2:p.Ala84Gly |