Linked Data
dbSNP Id:
rs563130890
gnomAD v2:
2-21225571-T-A
gnomAD v3:
2-21002699-T-A
gnomAD v4:
2-21002699-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002699T>A , CM000664.2:g.21002699T>A | GRCh38 |
| NC_000002.11:g.21225571T>A , CM000664.1:g.21225571T>A | GRCh37 |
| NC_000002.10:g.21079076T>A | NCBI36 |
| NG_011793.1:g.46375A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.12723A>T MANE Select | ENSP00000233242.1:p.Ile4241= | |
| ENST00000616098.4:c.12723A>T | ENSP00000477990.1:p.Ile4241= | |
| NM_000384.2:c.12723A>T | NP_000375.2:p.Ile4241= | |
| XM_011532809.1:c.5870-3426A>T | XP_011531111.1:n.5870-3426A>T | |
| NM_000384.3:c.12723A>T MANE Select | NP_000375.3:p.Ile4241= |