Linked Data
ClinVar Variation Id:
100788
ClinVar RCV Id:
RCV000087151
dbSNP Id:
rs587777168
PubMed:
PMID:23420520
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.220191121C>T , CM000663.2:g.220191121C>T | GRCh38 |
| NC_000001.10:g.220364463C>T , CM000663.1:g.220364463C>T | GRCh37 |
| NC_000001.9:g.218431086C>T | NCBI36 |
| NG_015837.1:g.86381G>A | |
| NG_015837.2:g.86381G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685286.1:c.1434G>A | ENSP00000509457.1:p.Trp478Ter | |
| ENST00000685664.1:c.1434G>A | ENSP00000509121.1:p.Trp478Ter | |
| ENST00000686381.1:c.1170G>A | ENSP00000509555.1:p.Trp390Ter | |
| ENST00000687065.1:c.1170G>A | ENSP00000510408.1:p.Trp390Ter | |
| ENST00000687394.1:n.1540G>A | ||
| ENST00000687647.1:c.1170G>A | ENSP00000509205.1:p.Trp390Ter | |
| ENST00000688035.1:n.1849G>A | ||
| ENST00000690315.1:c.1335G>A | ENSP00000509834.1:p.Trp445Ter | |
| ENST00000690373.1:n.1773G>A | ||
| ENST00000690379.1:n.1464G>A | ||
| ENST00000690824.1:c.1434G>A | ENSP00000510709.1:p.Trp478Ter | |
| ENST00000691661.1:c.1446G>A | ENSP00000510185.1:p.Trp482Ter | |
| ENST00000691862.1:c.1332G>A | ENSP00000509291.1:p.Trp444Ter | |
| ENST00000692813.1:c.1434G>A | ENSP00000509080.1:p.Trp478Ter | |
| ENST00000692972.1:c.1509G>A | ENSP00000510753.1:p.Trp503Ter | |
| ENST00000693454.1:n.644G>A | ||
| ENST00000693602.1:n.1527G>A | ||
| ENST00000358951.7:c.1434G>A MANE Select | ENSP00000351832.2:p.Trp478Ter | |
| ENST00000358951.6:c.1434G>A | ENSP00000351832.2:p.Trp478Ter | |
| ENST00000478976.1:n.292-696G>A | ||
| NM_012414.3:c.1434G>A | NP_036546.2:p.Trp478Ter | |
| NM_012414.4:c.1434G>A MANE Select | NP_036546.2:p.Trp478Ter |