Linked Data
ClinVar Variation Id:
2930221
ClinVar RCV Id:
RCV003787579
dbSNP Id:
rs1285077554
gnomAD v2:
2-21238297-G-T
gnomAD v3:
2-21015425-G-T
gnomAD v4:
2-21015425-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21015425G>T , CM000664.2:g.21015425G>T | GRCh38 |
| NC_000002.11:g.21238297G>T , CM000664.1:g.21238297G>T | GRCh37 |
| NC_000002.10:g.21091802G>T | NCBI36 |
| NG_011793.1:g.33649C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*2759C>A | ENSP00000501110.2:n.*2759C>A | |
| ENST00000673882.2:c.*2548C>A | ENSP00000501253.2:n.*2548C>A | |
| ENST00000673739.1:c.3167C>A | ENSP00000501110.1:n.3167C>A | |
| ENST00000673882.1:c.2956C>A | ENSP00000501253.1:n.2956C>A | |
| ENST00000233242.5:c.3453C>A MANE Select | ENSP00000233242.1:p.Asp1151Glu | |
| ENST00000616098.4:c.3453C>A | ENSP00000477990.1:p.Asp1151Glu | |
| NM_000384.2:c.3453C>A | NP_000375.2:p.Asp1151Glu | |
| XM_011532809.1:c.3453C>A | XP_011531111.1:p.Asp1151Glu | |
| NM_000384.3:c.3453C>A MANE Select | NP_000375.3:p.Asp1151Glu |