Linked Data
ClinVar Variation Id:
16164
dbSNP Id:
rs121909724
gnomAD v2:
2-27535377-C-T
gnomAD v3:
2-27312510-C-T
gnomAD v4:
2-27312510-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27312510C>T , CM000664.2:g.27312510C>T | GRCh38 |
| NC_000002.11:g.27535377C>T , CM000664.1:g.27535377C>T | GRCh37 |
| NC_000002.10:g.27388881C>T | NCBI36 |
| NG_008075.1:g.15055G>A | |
| NG_033055.1:g.754G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380044.6:c.359G>A MANE Select | ENSP00000369383.1:p.Trp120Ter | |
| ENST00000233545.6:c.359G>A | ENSP00000233545.2:p.Trp120Ter | |
| ENST00000357186.10:c.191G>A | ENSP00000349713.6:p.Trp64Ter | |
| ENST00000380044.5:c.359G>A | ENSP00000369383.1:p.Trp120Ter | |
| ENST00000402310.5:c.359G>A | ENSP00000383955.1:p.Trp120Ter | |
| ENST00000402722.5:c.*24G>A | ENSP00000386000.1:n.*24G>A | |
| ENST00000403262.6:c.359G>A | ENSP00000385671.1:p.Trp120Ter | |
| ENST00000405076.5:c.187-264G>A | ENSP00000385175.1:n.187-264G>A | |
| ENST00000405983.5:c.404G>A | ENSP00000384586.1:p.Trp135Ter | |
| ENST00000415514.5:c.*160G>A | ENSP00000388043.1:n.*160G>A | |
| ENST00000426513.6:c.*24G>A | ENSP00000403824.2:n.*24G>A | |
| ENST00000428910.5:c.281G>A | ENSP00000405235.1:p.Trp94Ter | |
| ENST00000430991.5:c.209+170G>A | ||
| ENST00000475085.1:n.387G>A | ||
| ENST00000616446.1:n.336G>A | ||
| ENST00000616707.1:n.878G>A | ||
| ENST00000617583.4:n.385G>A | ||
| ENST00000621183.4:n.415G>A | ||
| ENST00000621470.4:n.375G>A | ||
| ENST00000622003.4:n.532G>A | ||
| NM_002437.4:c.359G>A | NP_002428.1:p.Trp120Ter | |
| XM_005264326.2:c.359G>A | XP_005264383.1:p.Trp120Ter | |
| XM_005264327.2:c.200G>A | XP_005264384.1:p.Trp67Ter | |
| XM_006712021.2:c.311G>A | XP_006712084.1:p.Trp104Ter | |
| XM_005264326.4:c.359G>A | XP_005264383.1:p.Trp120Ter | |
| XM_006712021.3:c.311G>A | XP_006712084.1:p.Trp104Ter | |
| XM_017004150.1:c.341G>A | XP_016859639.1:p.Trp114Ter | |
| XM_017004151.1:c.311G>A | XP_016859640.1:p.Trp104Ter | |
| XM_017004152.1:c.200G>A | XP_016859641.1:p.Trp67Ter | |
| XM_024452913.1:c.311G>A | XP_024308681.1:p.Trp104Ter | |
| NM_002437.5:c.359G>A MANE Select | NP_002428.1:p.Trp120Ter |