Linked Data
ClinVar Variation Id:
2154513
dbSNP Id:
rs781578170
ExAC:
2:21234268 A / T
gnomAD v2:
2-21234268-A-T
gnomAD v4:
2-21011396-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21011396A>T , CM000664.2:g.21011396A>T | GRCh38 |
| NC_000002.11:g.21234268A>T , CM000664.1:g.21234268A>T | GRCh37 |
| NC_000002.10:g.21087773A>T | NCBI36 |
| NG_011793.1:g.37678T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673739.2:c.*4778T>A | ENSP00000501110.2:n.*4778T>A | |
| ENST00000673739.1:c.5186T>A | ENSP00000501110.1:n.5186T>A | |
| ENST00000233242.5:c.5472T>A MANE Select | ENSP00000233242.1:p.Ala1824= | |
| ENST00000616098.4:c.5472T>A | ENSP00000477990.1:p.Ala1824= | |
| NM_000384.2:c.5472T>A | NP_000375.2:p.Ala1824= | |
| XM_011532809.1:c.5472T>A | XP_011531111.1:p.Ala1824= | |
| NM_000384.3:c.5472T>A MANE Select | NP_000375.3:p.Ala1824= |