Linked Data
ClinVar Variation Id:
161332
ClinVar RCV Id:
RCV000148732
RCV000183769
RCV000232789
RCV001170221
RCV001844049
RCV002408659
RCV003318353
dbSNP Id:
rs199601548
ExAC:
12:33049482 G / T
gnomAD v2:
12-33049482-G-T
gnomAD v3:
12-32896548-G-T
gnomAD v4:
12-32896548-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.32896548G>T , CM000674.2:g.32896548G>T | GRCh38 |
| NC_000012.11:g.33049482G>T , CM000674.1:g.33049482G>T | GRCh37 |
| NC_000012.10:g.32940749G>T | NCBI36 |
| NG_009000.1:g.5299C>A , LRG_398:g.5299C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000546741.3:c.184C>A | ENSP00000481383.2:p.Gln62Lys | |
| ENST00000700559.2:c.184C>A | ENSP00000515065.2:p.Gln62Lys | |
| ENST00000700563.2:c.184C>A | ENSP00000515066.2:p.Gln62Lys | |
| ENST00000700563.1:c.138C>A | ||
| ENST00000700564.1:n.188C>A | ||
| ENST00000700565.1:n.37C>A | ||
| ENST00000070846.11:c.184C>A | ENSP00000070846.6:p.Gln62Lys | |
| ENST00000340811.9:c.184C>A MANE Select | ENSP00000342800.5:p.Gln62Lys | |
| ENST00000070846.10:c.184C>A | ENSP00000070846.6:p.Gln62Lys | |
| ENST00000340811.8:c.184C>A | ENSP00000342800.4:p.Gln62Lys | |
| ENST00000546741.2:c.54C>A | ||
| ENST00000613243.1:c.184C>A | ENSP00000478295.1:p.Gln62Lys | |
| NM_001005242.2:c.184C>A | NP_001005242.2:p.Gln62Lys | |
| NM_004572.3:c.184C>A , LRG_398t1:c.184C>A | NP_004563.2:p.Gln62Lys | |
| NM_001005242.3:c.184C>A MANE Select | NP_001005242.2:p.Gln62Lys | |
| NM_004572.4:c.184C>A | NP_004563.2:p.Gln62Lys |