Linked Data
ClinVar Variation Id:
464415
dbSNP Id:
rs778928536
ExAC:
12:32975469 G / A
gnomAD v2:
12-32975469-G-A
gnomAD v3:
12-32822535-G-A
gnomAD v4:
12-32822535-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32822535G>A , CM000674.2:g.32822535G>A | GRCh38 |
| NC_000012.11:g.32975469G>A , CM000674.1:g.32975469G>A | GRCh37 |
| NC_000012.10:g.32866736G>A | NCBI36 |
| NG_009000.1:g.79312C>T , LRG_398:g.79312C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.283C>T | ||
| ENST00000700559.2:c.1771C>T | ENSP00000515065.2:p.Arg591Trp | |
| ENST00000700563.2:c.1771C>T | ENSP00000515066.2:p.Arg591Trp | |
| ENST00000546498.2:n.458C>T | ||
| ENST00000700555.1:c.211C>T | ENSP00000515062.1:p.Arg71Trp | |
| ENST00000700556.1:c.242C>T | ||
| ENST00000700559.1:c.986C>T | ||
| ENST00000700560.1:n.986C>T | ||
| ENST00000700561.1:n.1112C>T | ||
| ENST00000700563.1:c.1725C>T | ||
| ENST00000700564.1:n.1775C>T | ||
| ENST00000070846.11:c.1903C>T | ENSP00000070846.6:p.Arg635Trp | |
| ENST00000340811.9:c.1771C>T MANE Select | ENSP00000342800.5:p.Arg591Trp | |
| ENST00000070846.10:c.1903C>T | ENSP00000070846.6:p.Arg635Trp | |
| ENST00000340811.8:c.1771C>T | ENSP00000342800.4:p.Arg591Trp | |
| ENST00000546498.1:n.458C>T | ||
| ENST00000552612.5:n.192C>T | ||
| ENST00000613243.1:c.1903C>T | ENSP00000478295.1:p.Arg635Trp | |
| NM_001005242.2:c.1771C>T | NP_001005242.2:p.Arg591Trp | |
| NM_004572.3:c.1903C>T , LRG_398t1:c.1903C>T | NP_004563.2:p.Arg635Trp | |
| NM_001005242.3:c.1771C>T MANE Select | NP_001005242.2:p.Arg591Trp | |
| NM_004572.4:c.1903C>T | NP_004563.2:p.Arg635Trp |