Linked Data
ClinVar Variation Id:
55410
dbSNP Id:
rs80357418
gnomAD v2:
17-41215907-C-T
gnomAD v4:
17-43063890-C-T
PubMed:
PMID:12920083
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.43063890C>T , CM000679.2:g.43063890C>T | GRCh38 |
| NC_000017.10:g.41215907C>T , CM000679.1:g.41215907C>T | GRCh37 |
| NC_000017.9:g.38469433C>T | NCBI36 |
| NG_005905.2:g.154094G>A , LRG_292:g.154094G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461574.2:c.5133G>A | ENSP00000417241.2:p.Trp1711Ter | |
| ENST00000470026.6:c.5136G>A | ENSP00000419274.2:p.Trp1712Ter | |
| ENST00000473961.6:c.5010G>A | ENSP00000420201.2:p.Trp1670Ter | |
| ENST00000476777.6:c.5130G>A | ENSP00000417554.2:p.Trp1710Ter | |
| ENST00000477152.6:c.5058G>A | ENSP00000419988.2:p.Trp1686Ter | |
| ENST00000478531.6:c.1824G>A | ENSP00000420412.2:p.Trp608Ter | |
| ENST00000489037.2:c.5058G>A | ENSP00000420781.2:p.Trp1686Ter | |
| ENST00000493919.6:c.1686G>A | ENSP00000418819.2:p.Trp562Ter | |
| ENST00000494123.6:c.5136G>A | ENSP00000419103.2:p.Trp1712Ter | |
| ENST00000497488.2:c.4248G>A | ENSP00000418986.2:p.Trp1416Ter | |
| ENST00000618469.2:c.5136G>A | ENSP00000478114.2:p.Trp1712Ter | |
| ENST00000634433.2:c.5013G>A | ENSP00000489431.2:p.Trp1671Ter | |
| ENST00000644379.2:c.5202G>A | ENSP00000496570.2:p.Trp1734Ter | |
| ENST00000644555.2:c.1686G>A | ENSP00000494614.2:p.Trp562Ter | |
| ENST00000652672.2:c.4995G>A | ENSP00000498906.2:p.Trp1665Ter | |
| ENST00000484087.6:c.1698G>A | ENSP00000419481.2:p.Trp566Ter | |
| ENST00000357654.9:c.5136G>A MANE Select | ENSP00000350283.3:p.Trp1712Ter | |
| ENST00000471181.7:c.5199G>A | ENSP00000418960.2:p.Trp1733Ter | |
| ENST00000644379.1:c.1523G>A | ||
| ENST00000352993.7:c.1710G>A | ENSP00000312236.5:p.Trp570Ter | |
| ENST00000357654.7:c.5136G>A | ENSP00000350283.3:p.Trp1712Ter | |
| ENST00000461221.5:c.*4919G>A | ENSP00000418548.1:n.*4919G>A | |
| ENST00000468300.5:c.1824G>A | ENSP00000417148.1:p.Trp608Ter | |
| ENST00000471181.6:c.5199G>A | ENSP00000418960.2:p.Trp1733Ter | |
| ENST00000478531.5:c.1824G>A | ENSP00000420412.1:p.Trp608Ter | |
| ENST00000484087.5:c.1449G>A | ENSP00000419481.1:p.Trp483Ter | |
| ENST00000491747.6:c.1824G>A | ENSP00000420705.2:p.Trp608Ter | |
| ENST00000493795.5:c.4995G>A | ENSP00000418775.1:p.Trp1665Ter | |
| ENST00000493919.5:c.1686G>A | ENSP00000418819.1:p.Trp562Ter | |
| ENST00000586385.5:c.66G>A | ENSP00000465818.1:p.Trp22Ter | |
| ENST00000591534.5:c.609G>A | ENSP00000467329.1:p.Trp203Ter | |
| ENST00000591849.5:c.-98-13700G>A | ENSP00000465347.1:n.-98-13700G>A | |
| NM_007294.3:c.5136G>A , LRG_292t1:c.5136G>A | NP_009225.1:p.Trp1712Ter | |
| NM_007297.3:c.4995G>A | NP_009228.2:p.Trp1665Ter | |
| NM_007298.3:c.1824G>A | NP_009229.2:p.Trp608Ter | |
| NM_007299.3:c.1824G>A | NP_009230.2:p.Trp608Ter | |
| NM_007300.3:c.5199G>A | NP_009231.2:p.Trp1733Ter | |
| NR_027676.1:n.5272G>A | ||
| NM_007294.4:c.5136G>A MANE Select | NP_009225.1:p.Trp1712Ter | |
| NM_007297.4:c.4995G>A | NP_009228.2:p.Trp1665Ter | |
| NM_007299.4:c.1824G>A | NP_009230.2:p.Trp608Ter | |
| NM_007300.4:c.5199G>A | NP_009231.2:p.Trp1733Ter | |
| NR_027676.2:n.5313G>A |