Linked Data
ClinVar Variation Id:
3071357
ClinVar RCV Id:
RCV004014859
dbSNP Id:
rs776922980
ExAC:
12:32977035 C / G
gnomAD v2:
12-32977035-C-G
gnomAD v4:
12-32824101-C-G
COSMIC:
COSM1287182
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32824101C>G , CM000674.2:g.32824101C>G | GRCh38 |
| NC_000012.11:g.32977035C>G , CM000674.1:g.32977035C>G | GRCh37 |
| NC_000012.10:g.32868302C>G | NCBI36 |
| NG_009000.1:g.77746G>C , LRG_398:g.77746G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.130G>C | ||
| ENST00000700559.2:c.1618G>C | ENSP00000515065.2:p.Asp540His | |
| ENST00000700563.2:c.1618G>C | ENSP00000515066.2:p.Asp540His | |
| ENST00000546498.2:n.305G>C | ||
| ENST00000700555.1:c.58G>C | ENSP00000515062.1:p.Asp20His | |
| ENST00000700556.1:c.89G>C | ||
| ENST00000700559.1:c.833G>C | ||
| ENST00000700560.1:n.833G>C | ||
| ENST00000700561.1:n.959G>C | ||
| ENST00000700563.1:c.1572G>C | ||
| ENST00000700564.1:n.1622G>C | ||
| ENST00000070846.11:c.1750G>C | ENSP00000070846.6:p.Asp584His | |
| ENST00000340811.9:c.1618G>C MANE Select | ENSP00000342800.5:p.Asp540His | |
| ENST00000070846.10:c.1750G>C | ENSP00000070846.6:p.Asp584His | |
| ENST00000340811.8:c.1618G>C | ENSP00000342800.4:p.Asp540His | |
| ENST00000546498.1:n.305G>C | ||
| ENST00000552612.5:n.39G>C | ||
| ENST00000613243.1:c.1750G>C | ENSP00000478295.1:p.Asp584His | |
| NM_001005242.2:c.1618G>C | NP_001005242.2:p.Asp540His | |
| NM_004572.3:c.1750G>C , LRG_398t1:c.1750G>C | NP_004563.2:p.Asp584His | |
| NM_001005242.3:c.1618G>C MANE Select | NP_001005242.2:p.Asp540His | |
| NM_004572.4:c.1750G>C | NP_004563.2:p.Asp584His |