Linked Data
dbSNP Id:
rs764460830
ExAC:
1:47398667 C / T
gnomAD v2:
1-47398667-C-T
gnomAD v3:
1-46932995-C-T
gnomAD v4:
1-46932995-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.46932995C>T , CM000663.2:g.46932995C>T | GRCh38 |
| NC_000001.10:g.47398667C>T , CM000663.1:g.47398667C>T | GRCh37 |
| NC_000001.9:g.47171254C>T | NCBI36 |
| NG_007932.1:g.13490G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310638.9:c.1275G>A MANE Select | ENSP00000311095.4:p.Trp425Ter | |
| ENST00000310638.8:c.1275G>A | ENSP00000311095.4:p.Trp425Ter | |
| ENST00000371904.8:c.1278G>A | ENSP00000360971.4:p.Trp426Ter | |
| ENST00000371905.1:c.1275G>A | ENSP00000360972.1:p.Trp425Ter | |
| ENST00000462347.5:c.981G>A | ENSP00000477495.1:p.Trp327Ter | |
| ENST00000465874.5:c.*73G>A | ENSP00000476368.1:n.*73G>A | |
| ENST00000468629.5:c.1127-158G>A | ENSP00000476619.1:n.1127-158G>A | |
| ENST00000474458.5:c.743-158G>A | ENSP00000476988.1:n.743-158G>A | |
| ENST00000475477.5:c.*82-158G>A | ENSP00000476854.1:n.*82-158G>A | |
| NM_000778.3:c.1275G>A | NP_000769.2:p.Trp425Ter | |
| XM_005270539.1:c.981G>A | XP_005270596.1:p.Trp327Ter | |
| XM_011540826.1:c.1293G>A | XP_011539128.1:p.Trp431Ter | |
| XM_011540827.1:c.999G>A | XP_011539129.1:p.Trp333Ter | |
| XM_011540828.1:c.981G>A | XP_011539130.1:p.Trp327Ter | |
| XR_246241.1:n.1179G>A | ||
| XR_246242.1:n.1163G>A | ||
| NM_001319155.1:c.1179G>A | NP_001306084.1:p.Trp393Ter | |
| NM_001363587.1:c.981G>A | NP_001350516.1:p.Trp327Ter | |
| NR_134988.1:n.980G>A | ||
| NR_134989.1:n.1171G>A | ||
| NR_134990.1:n.1178-158G>A | ||
| NR_134991.1:n.1152G>A | ||
| NR_134992.1:n.794-158G>A | ||
| NR_134993.1:n.928-158G>A | ||
| NR_134994.1:n.1187G>A | ||
| XM_017000465.1:c.963G>A | XP_016855954.1:p.Trp321Ter | |
| XR_001737005.1:n.1266-158G>A | ||
| NM_000778.4:c.1275G>A MANE Select | NP_000769.2:p.Trp425Ter | |
| NM_001319155.2:c.1179G>A | NP_001306084.1:p.Trp393Ter | |
| NM_001363587.2:c.981G>A | NP_001350516.1:p.Trp327Ter | |
| NR_134988.2:n.972G>A | ||
| NR_134989.2:n.1163G>A | ||
| NR_134990.2:n.1170-158G>A | ||
| NR_134991.2:n.1144G>A | ||
| NR_134992.2:n.786-158G>A | ||
| NR_134993.2:n.920-158G>A | ||
| NR_134994.2:n.1179G>A |