Linked Data
ClinVar Variation Id:
201998
dbSNP Id:
rs751288871
ExAC:
12:32975421 G / A
gnomAD v2:
12-32975421-G-A
gnomAD v4:
12-32822487-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32822487G>A , CM000674.2:g.32822487G>A | GRCh38 |
| NC_000012.11:g.32975421G>A , CM000674.1:g.32975421G>A | GRCh37 |
| NC_000012.10:g.32866688G>A | NCBI36 |
| NG_009000.1:g.79360C>T , LRG_398:g.79360C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700555.2:n.331C>T | ||
| ENST00000700559.2:c.1819C>T | ENSP00000515065.2:p.Arg607Ter | |
| ENST00000700563.2:c.1819C>T | ENSP00000515066.2:p.Arg607Ter | |
| ENST00000546498.2:n.506C>T | ||
| ENST00000700555.1:c.259C>T | ENSP00000515062.1:p.Arg87Ter | |
| ENST00000700556.1:c.290C>T | ||
| ENST00000700559.1:c.1034C>T | ||
| ENST00000700560.1:n.1034C>T | ||
| ENST00000700561.1:n.1160C>T | ||
| ENST00000700563.1:c.1773C>T | ||
| ENST00000700564.1:n.1823C>T | ||
| ENST00000070846.11:c.1951C>T | ENSP00000070846.6:p.Arg651Ter | |
| ENST00000340811.9:c.1819C>T MANE Select | ENSP00000342800.5:p.Arg607Ter | |
| ENST00000070846.10:c.1951C>T | ENSP00000070846.6:p.Arg651Ter | |
| ENST00000340811.8:c.1819C>T | ENSP00000342800.4:p.Arg607Ter | |
| ENST00000546498.1:n.506C>T | ||
| ENST00000552612.5:n.240C>T | ||
| ENST00000613243.1:c.1951C>T | ENSP00000478295.1:p.Arg651Ter | |
| NM_001005242.2:c.1819C>T | NP_001005242.2:p.Arg607Ter | |
| NM_004572.3:c.1951C>T , LRG_398t1:c.1951C>T | NP_004563.2:p.Arg651Ter | |
| NM_001005242.3:c.1819C>T MANE Select | NP_001005242.2:p.Arg607Ter | |
| NM_004572.4:c.1951C>T | NP_004563.2:p.Arg651Ter |