Linked Data
ClinVar Variation Id:
1171737
dbSNP Id:
rs766775778
ExAC:
12:32949083 C / T
gnomAD v2:
12-32949083-C-T
gnomAD v3:
12-32796149-C-T
gnomAD v4:
12-32796149-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32796149C>T , CM000674.2:g.32796149C>T | GRCh38 |
| NC_000012.11:g.32949083C>T , CM000674.1:g.32949083C>T | GRCh37 |
| NC_000012.10:g.32840350C>T | NCBI36 |
| NG_009000.1:g.105698G>A , LRG_398:g.105698G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700555.2:n.820G>A | ||
| ENST00000700557.2:n.409G>A | ||
| ENST00000700559.2:c.2168-3418G>A | ENSP00000515065.2:n.2168-3418G>A | |
| ENST00000546498.2:n.1004G>A | ||
| ENST00000549461.2:n.809G>A | ||
| ENST00000700555.1:c.748G>A | ENSP00000515062.1:p.Gly250Arg | |
| ENST00000700556.1:c.788G>A | ||
| ENST00000700557.1:c.328G>A | ENSP00000515064.1:p.Gly110Arg | |
| ENST00000700558.1:n.531G>A | ||
| ENST00000700559.1:c.1383-3418G>A | ||
| ENST00000700560.1:n.1532G>A | ||
| ENST00000700561.1:n.1658G>A | ||
| ENST00000070846.11:c.2449G>A | ENSP00000070846.6:p.Gly817Arg | |
| ENST00000340811.9:c.2317G>A MANE Select | ENSP00000342800.5:p.Gly773Arg | |
| ENST00000070846.10:c.2449G>A | ENSP00000070846.6:p.Gly817Arg | |
| ENST00000340811.8:c.2317G>A | ENSP00000342800.4:p.Gly773Arg | |
| ENST00000613243.1:c.2447G>A | ENSP00000478295.1:p.Arg816Gln | |
| NM_001005242.2:c.2317G>A | NP_001005242.2:p.Gly773Arg | |
| NM_004572.3:c.2449G>A , LRG_398t1:c.2449G>A | NP_004563.2:p.Gly817Arg | |
| NM_001005242.3:c.2317G>A MANE Select | NP_001005242.2:p.Gly773Arg | |
| NM_004572.4:c.2449G>A | NP_004563.2:p.Gly817Arg |