Linked Data
ClinVar Variation Id:
920436
ClinVar RCV Id:
RCV001179192
dbSNP Id:
rs1956409471
MyVariant Identifiers:
chr12:g.32977033G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32824099G>A , CM000674.2:g.32824099G>A | GRCh38 |
| NC_000012.11:g.32977033G>A , CM000674.1:g.32977033G>A | GRCh37 |
| NC_000012.10:g.32868300G>A | NCBI36 |
| NG_009000.1:g.77748C>T , LRG_398:g.77748C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.132C>T | ||
| ENST00000700559.2:c.1620C>T | ENSP00000515065.2:p.Asp540= | |
| ENST00000700563.2:c.1620C>T | ENSP00000515066.2:p.Asp540= | |
| ENST00000546498.2:n.307C>T | ||
| ENST00000700555.1:c.60C>T | ENSP00000515062.1:p.Asp20= | |
| ENST00000700556.1:c.91C>T | ||
| ENST00000700559.1:c.835C>T | ||
| ENST00000700560.1:n.835C>T | ||
| ENST00000700561.1:n.961C>T | ||
| ENST00000700563.1:c.1574C>T | ||
| ENST00000700564.1:n.1624C>T | ||
| ENST00000070846.11:c.1752C>T | ENSP00000070846.6:p.Asp584= | |
| ENST00000340811.9:c.1620C>T MANE Select | ENSP00000342800.5:p.Asp540= | |
| ENST00000070846.10:c.1752C>T | ENSP00000070846.6:p.Asp584= | |
| ENST00000340811.8:c.1620C>T | ENSP00000342800.4:p.Asp540= | |
| ENST00000546498.1:n.307C>T | ||
| ENST00000552612.5:n.41C>T | ||
| ENST00000613243.1:c.1752C>T | ENSP00000478295.1:p.Asp584= | |
| NM_001005242.2:c.1620C>T | NP_001005242.2:p.Asp540= | |
| NM_004572.3:c.1752C>T , LRG_398t1:c.1752C>T | NP_004563.2:p.Asp584= | |
| NM_001005242.3:c.1620C>T MANE Select | NP_001005242.2:p.Asp540= | |
| NM_004572.4:c.1752C>T | NP_004563.2:p.Asp584= |