Linked Data
ClinVar Variation Id:
1047065
dbSNP Id:
rs763648594
ExAC:
12:32975420 C / T
gnomAD v2:
12-32975420-C-T
gnomAD v3:
12-32822486-C-T
gnomAD v4:
12-32822486-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32822486C>T , CM000674.2:g.32822486C>T | GRCh38 |
| NC_000012.11:g.32975420C>T , CM000674.1:g.32975420C>T | GRCh37 |
| NC_000012.10:g.32866687C>T | NCBI36 |
| NG_009000.1:g.79361G>A , LRG_398:g.79361G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.332G>A | ||
| ENST00000700559.2:c.1820G>A | ENSP00000515065.2:p.Arg607Gln | |
| ENST00000700563.2:c.1820G>A | ENSP00000515066.2:p.Arg607Gln | |
| ENST00000546498.2:n.507G>A | ||
| ENST00000700555.1:c.260G>A | ENSP00000515062.1:p.Arg87Gln | |
| ENST00000700556.1:c.291G>A | ||
| ENST00000700559.1:c.1035G>A | ||
| ENST00000700560.1:n.1035G>A | ||
| ENST00000700561.1:n.1161G>A | ||
| ENST00000700563.1:c.1774G>A | ||
| ENST00000700564.1:n.1824G>A | ||
| ENST00000070846.11:c.1952G>A | ENSP00000070846.6:p.Arg651Gln | |
| ENST00000340811.9:c.1820G>A MANE Select | ENSP00000342800.5:p.Arg607Gln | |
| ENST00000070846.10:c.1952G>A | ENSP00000070846.6:p.Arg651Gln | |
| ENST00000340811.8:c.1820G>A | ENSP00000342800.4:p.Arg607Gln | |
| ENST00000546498.1:n.507G>A | ||
| ENST00000552612.5:n.241G>A | ||
| ENST00000613243.1:c.1952G>A | ENSP00000478295.1:p.Arg651Gln | |
| NM_001005242.2:c.1820G>A | NP_001005242.2:p.Arg607Gln | |
| NM_004572.3:c.1952G>A , LRG_398t1:c.1952G>A | NP_004563.2:p.Arg651Gln | |
| NM_001005242.3:c.1820G>A MANE Select | NP_001005242.2:p.Arg607Gln | |
| NM_004572.4:c.1952G>A | NP_004563.2:p.Arg651Gln |