Linked Data
dbSNP Id:
rs367783196
ExAC:
1:24175268 T / C
gnomAD v2:
1-24175268-T-C
gnomAD v4:
1-23848778-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848778T>C , CM000663.2:g.23848778T>C | GRCh38 |
| NC_000001.10:g.24175268T>C , CM000663.1:g.24175268T>C | GRCh37 |
| NC_000001.9:g.24047855T>C | NCBI36 |
| NG_013346.1:g.24592A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1031A>G MANE Select | ENSP00000363603.3:p.Asp344Gly | |
| ENST00000374479.3:c.1031A>G | ENSP00000363603.3:p.Asp344Gly | |
| NM_000147.4:c.1031A>G | NP_000138.2:p.Asp344Gly | |
| XM_005245821.1:c.656A>G | XP_005245878.1:p.Asp219Gly | |
| XM_011541167.1:c.398A>G | XP_011539469.1:p.Asp133Gly | |
| XM_005245821.3:c.656A>G | XP_005245878.1:p.Asp219Gly | |
| XM_011541167.3:c.398A>G | XP_011539469.1:p.Asp133Gly | |
| XM_017000905.2:c.728A>G | XP_016856394.1:p.Asp243Gly | |
| NM_000147.5:c.1031A>G MANE Select | NP_000138.2:p.Asp344Gly | |
| NR_174379.1:n.1209A>G | ||
| NR_174380.1:n.1258A>G | ||
| NR_174381.1:n.1097A>G | ||
| NR_174382.1:n.1494A>G |