Linked Data
ClinVar Variation Id:
630322
dbSNP Id:
rs778822926
ExAC:
2:21238335 C / T
gnomAD v2:
2-21238335-C-T
gnomAD v3:
2-21015463-C-T
gnomAD v4:
2-21015463-C-T
COSMIC:
COSM3407548
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015463C>T , CM000664.2:g.21015463C>T | GRCh38 |
| NC_000002.11:g.21238335C>T , CM000664.1:g.21238335C>T | GRCh37 |
| NC_000002.10:g.21091840C>T | NCBI36 |
| NG_011793.1:g.33611G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2721G>A | ENSP00000501110.2:n.*2721G>A | |
| ENST00000673882.2:c.*2510G>A | ENSP00000501253.2:n.*2510G>A | |
| ENST00000673739.1:c.3129G>A | ENSP00000501110.1:n.3129G>A | |
| ENST00000673882.1:c.2918G>A | ENSP00000501253.1:n.2918G>A | |
| ENST00000233242.5:c.3415G>A MANE Select | ENSP00000233242.1:p.Ala1139Thr | |
| ENST00000616098.4:c.3415G>A | ENSP00000477990.1:p.Ala1139Thr | |
| NM_000384.2:c.3415G>A | NP_000375.2:p.Ala1139Thr | |
| XM_011532809.1:c.3415G>A | XP_011531111.1:p.Ala1139Thr | |
| NM_000384.3:c.3415G>A MANE Select | NP_000375.3:p.Ala1139Thr |