Linked Data
dbSNP Id:
rs1358757172
gnomAD v2:
1-24175140-A-C
gnomAD v3:
1-23848650-A-C
gnomAD v4:
1-23848650-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848650A>C , CM000663.2:g.23848650A>C | GRCh38 |
| NC_000001.10:g.24175140A>C , CM000663.1:g.24175140A>C | GRCh37 |
| NC_000001.9:g.24047727A>C | NCBI36 |
| NG_013346.1:g.24720T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1159T>G MANE Select | ENSP00000363603.3:p.Trp387Gly | |
| ENST00000374479.3:c.1159T>G | ENSP00000363603.3:p.Trp387Gly | |
| NM_000147.4:c.1159T>G | NP_000138.2:p.Trp387Gly | |
| XM_005245821.1:c.784T>G | XP_005245878.1:p.Trp262Gly | |
| XM_011541167.1:c.526T>G | XP_011539469.1:p.Trp176Gly | |
| XM_005245821.3:c.784T>G | XP_005245878.1:p.Trp262Gly | |
| XM_011541167.3:c.526T>G | XP_011539469.1:p.Trp176Gly | |
| XM_017000905.2:c.856T>G | XP_016856394.1:p.Trp286Gly | |
| NM_000147.5:c.1159T>G MANE Select | NP_000138.2:p.Trp387Gly | |
| NR_174379.1:n.1337T>G | ||
| NR_174380.1:n.1386T>G | ||
| NR_174381.1:n.1225T>G | ||
| NR_174382.1:n.1622T>G |