Linked Data
dbSNP Id:
rs1325479464
gnomAD v2:
10-105922088-C-A
gnomAD v3:
10-104162330-C-A
gnomAD v4:
10-104162330-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.104162330C>A , CM000672.2:g.104162330C>A | GRCh38 |
| NC_000010.10:g.105922088C>A , CM000672.1:g.105922088C>A | GRCh37 |
| NC_000010.9:g.105912078C>A | NCBI36 |
| NG_051581.1:g.75048G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357060.8:c.3320G>T MANE Select | ENSP00000349568.3:p.Trp1107Leu | |
| ENST00000357060.7:c.3320G>T | ENSP00000349568.3:p.Trp1107Leu | |
| ENST00000434629.5:c.1402G>T | ||
| NM_025145.5:c.3320G>T | NP_079421.5:p.Trp1107Leu | |
| XM_005270171.1:c.3323G>T | XP_005270228.1:p.Trp1108Leu | |
| XM_005270172.2:c.3323G>T | XP_005270229.1:p.Trp1108Leu | |
| XM_011540196.1:c.3437G>T | XP_011538498.1:p.Trp1146Leu | |
| XM_011540197.1:c.3437G>T | XP_011538499.1:p.Trp1146Leu | |
| XM_011540198.1:c.3320G>T | XP_011538500.1:p.Trp1107Leu | |
| XM_011540199.1:c.3320G>T | XP_011538501.1:p.Trp1107Leu | |
| XM_011540200.1:c.3437G>T | XP_011538502.1:p.Trp1146Leu | |
| XM_011540201.1:c.3437G>T | XP_011538503.1:p.Trp1146Leu | |
| XM_011540202.1:c.2666G>T | XP_011538504.1:p.Trp889Leu | |
| XM_011540203.1:c.1220G>T | XP_011538505.1:p.Trp407Leu | |
| NM_025145.6:c.3320G>T | NP_079421.5:p.Trp1107Leu | |
| XM_005270171.2:c.3323G>T | XP_005270228.1:p.Trp1108Leu | |
| XM_005270172.3:c.3323G>T | XP_005270229.1:p.Trp1108Leu | |
| XM_011540196.2:c.3437G>T | XP_011538498.1:p.Trp1146Leu | |
| XM_011540197.2:c.3437G>T | XP_011538499.1:p.Trp1146Leu | |
| XM_011540198.2:c.3320G>T | XP_011538500.1:p.Trp1107Leu | |
| XM_011540199.2:c.3320G>T | XP_011538501.1:p.Trp1107Leu | |
| XM_011540200.2:c.3437G>T | XP_011538502.1:p.Trp1146Leu | |
| XM_011540201.2:c.3437G>T | XP_011538503.1:p.Trp1146Leu | |
| XM_011540202.2:c.2666G>T | XP_011538504.1:p.Trp889Leu | |
| XM_017016681.1:c.3434G>T | XP_016872170.1:p.Trp1145Leu | |
| XM_017016682.1:c.3089G>T | XP_016872171.1:p.Trp1030Leu | |
| XM_024448177.1:c.1823G>T | XP_024303945.1:p.Trp608Leu | |
| XM_024448178.1:c.1220G>T | XP_024303946.1:p.Trp407Leu | |
| XR_002957015.1:n.3206G>T | ||
| NM_025145.7:c.3320G>T MANE Select | NP_079421.5:p.Trp1107Leu |