Linked Data
ClinVar Variation Id:
6755
dbSNP Id:
rs121434421
ExAC:
12:32955433 G / A
gnomAD v2:
12-32955433-G-A
gnomAD v4:
12-32802499-G-A
MyVariant Identifiers:
chr12:g.32955433G>A (hg19)
chr12:g.32955433_32955438delinsAGGTGT (hg19)
chr12:g.32802499G>A (hg38)
PubMed:
PMID:15489853
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32802499G>A , CM000674.2:g.32802499G>A | GRCh38 |
| NC_000012.11:g.32955433G>A , CM000674.1:g.32955433G>A | GRCh37 |
| NC_000012.10:g.32846700G>A | NCBI36 |
| NG_009000.1:g.99348C>T , LRG_398:g.99348C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.574C>T | ||
| ENST00000700557.2:n.163C>T | ||
| ENST00000700559.2:c.2071C>T | ENSP00000515065.2:p.Arg691Ter | |
| ENST00000546498.2:n.758C>T | ||
| ENST00000549461.2:n.610C>T | ||
| ENST00000700555.1:c.502C>T | ENSP00000515062.1:p.Arg168Ter | |
| ENST00000700556.1:c.542C>T | ||
| ENST00000700557.1:c.82C>T | ENSP00000515064.1:p.Arg28Ter | |
| ENST00000700558.1:n.285C>T | ||
| ENST00000700559.1:c.1286C>T | ||
| ENST00000700560.1:n.1286C>T | ||
| ENST00000700561.1:n.1412C>T | ||
| ENST00000070846.11:c.2203C>T | ENSP00000070846.6:p.Arg735Ter | |
| ENST00000340811.9:c.2071C>T MANE Select | ENSP00000342800.5:p.Arg691Ter | |
| ENST00000070846.10:c.2203C>T | ENSP00000070846.6:p.Arg735Ter | |
| ENST00000340811.8:c.2071C>T | ENSP00000342800.4:p.Arg691Ter | |
| ENST00000549461.1:n.517C>T | ||
| ENST00000613243.1:c.2203C>T | ENSP00000478295.1:p.Arg735Ter | |
| NM_001005242.2:c.2071C>T | NP_001005242.2:p.Arg691Ter | |
| NM_004572.3:c.2203C>T , LRG_398t1:c.2203C>T | NP_004563.2:p.Arg735Ter | |
| NM_001005242.3:c.2071C>T MANE Select | NP_001005242.2:p.Arg691Ter | |
| NM_004572.4:c.2203C>T | NP_004563.2:p.Arg735Ter |