Linked Data
ClinVar Variation Id:
1278472
ClinVar RCV Id:
RCV001688080
dbSNP Id:
rs11575580
ExAC:
9:34660864 C / T
gnomAD v2:
9-34660864-C-T
gnomAD v3:
9-34660867-C-T
gnomAD v4:
9-34660867-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34660867C>T , CM000671.2:g.34660867C>T | GRCh38 |
| NC_000009.11:g.34660864C>T , CM000671.1:g.34660864C>T | GRCh37 |
| NC_000009.10:g.34650864C>T | NCBI36 |
| NG_028966.1:g.13683C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000466082.2:c.1233C>T | ENSP00000432263.2:n.1233C>T | |
| ENST00000478308.2:n.1654C>T | ||
| ENST00000553620.6:c.952C>T | ENSP00000452207.2:p.Arg318Trp | |
| ENST00000555003.6:c.1195C>T | ENSP00000450565.2:p.Arg399Trp | |
| ENST00000555981.6:c.1183C>T | ENSP00000450640.2:p.Arg395Trp | |
| ENST00000556531.6:c.1169+267C>T | ENSP00000451447.2:n.1169+267C>T | |
| ENST00000684861.1:n.1776C>T | ||
| ENST00000685278.1:n.902C>T | ||
| ENST00000685430.1:c.1264C>T | ENSP00000510344.1:n.1264C>T | |
| ENST00000685662.1:n.1317C>T | ||
| ENST00000685768.1:n.1844C>T | ||
| ENST00000686794.1:n.879C>T | ||
| ENST00000687192.1:n.1068C>T | ||
| ENST00000687770.1:n.2377C>T | ||
| ENST00000690286.1:c.1183C>T | ENSP00000509204.1:p.Arg395Trp | |
| ENST00000691183.1:c.*3568C>T | ENSP00000509954.1:n.*3568C>T | |
| ENST00000692291.1:n.1484C>T | ||
| ENST00000692530.1:n.1550C>T | ||
| ENST00000692788.1:c.*1210C>T | ENSP00000510222.1:n.*1210C>T | |
| ENST00000441545.7:c.1183C>T MANE Select | ENSP00000394391.3:p.Arg395Trp | |
| ENST00000318041.13:c.1183C>T | ENSP00000326500.8:p.Arg395Trp | |
| ENST00000441545.6:c.1183C>T | ENSP00000394391.2:p.Arg395Trp | |
| ENST00000466082.1:c.296C>T | ||
| ENST00000555003.5:c.1183C>T | ENSP00000450565.1:p.Arg395Trp | |
| ENST00000555247.5:c.*957C>T | ENSP00000450707.1:n.*957C>T | |
| ENST00000557298.5:c.*806C>T | ENSP00000451553.1:n.*806C>T | |
| NM_001142784.2:c.1183C>T | NP_001136256.1:p.Arg395Trp | |
| NR_052010.1:n.1286C>T | ||
| NM_001142784.3:c.1183C>T MANE Select | NP_001136256.1:p.Arg395Trp | |
| NR_052010.2:n.1270C>T |