Linked Data
dbSNP Id:
rs759201228
ExAC:
1:24175169 A / C
gnomAD v2:
1-24175169-A-C
gnomAD v4:
1-23848679-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848679A>C , CM000663.2:g.23848679A>C | GRCh38 |
| NC_000001.10:g.24175169A>C , CM000663.1:g.24175169A>C | GRCh37 |
| NC_000001.9:g.24047756A>C | NCBI36 |
| NG_013346.1:g.24691T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1130T>G MANE Select | ENSP00000363603.3:p.Val377Gly | |
| ENST00000374479.3:c.1130T>G | ENSP00000363603.3:p.Val377Gly | |
| NM_000147.4:c.1130T>G | NP_000138.2:p.Val377Gly | |
| XM_005245821.1:c.755T>G | XP_005245878.1:p.Val252Gly | |
| XM_011541167.1:c.497T>G | XP_011539469.1:p.Val166Gly | |
| XM_005245821.3:c.755T>G | XP_005245878.1:p.Val252Gly | |
| XM_011541167.3:c.497T>G | XP_011539469.1:p.Val166Gly | |
| XM_017000905.2:c.827T>G | XP_016856394.1:p.Val276Gly | |
| NM_000147.5:c.1130T>G MANE Select | NP_000138.2:p.Val377Gly | |
| NR_174379.1:n.1308T>G | ||
| NR_174380.1:n.1357T>G | ||
| NR_174381.1:n.1196T>G | ||
| NR_174382.1:n.1593T>G |