Linked Data
ClinVar Variation Id:
2586182
ClinVar RCV Id:
RCV003368253
dbSNP Id:
rs764058064
ExAC:
2:21246402 C / T
gnomAD v2:
2-21246402-C-T
gnomAD v4:
2-21023530-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21023530C>T , CM000664.2:g.21023530C>T | GRCh38 |
| NC_000002.11:g.21246402C>T , CM000664.1:g.21246402C>T | GRCh37 |
| NC_000002.10:g.21099907C>T | NCBI36 |
| NG_011793.1:g.25544G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*1905G>A | ENSP00000501110.2:n.*1905G>A | |
| ENST00000673882.2:c.*1905G>A | ENSP00000501253.2:n.*1905G>A | |
| ENST00000673739.1:c.2313G>A | ENSP00000501110.1:n.2313G>A | |
| ENST00000673882.1:c.2313G>A | ENSP00000501253.1:n.2313G>A | |
| ENST00000233242.5:c.2599G>A MANE Select | ENSP00000233242.1:p.Ala867Thr | |
| ENST00000616098.4:c.2599G>A | ENSP00000477990.1:p.Ala867Thr | |
| NM_000384.2:c.2599G>A | NP_000375.2:p.Ala867Thr | |
| XM_011532809.1:c.2599G>A | XP_011531111.1:p.Ala867Thr | |
| NM_000384.3:c.2599G>A MANE Select | NP_000375.3:p.Ala867Thr |