Linked Data
dbSNP Id:
rs758259925
ExAC:
2:21225447 C / T
gnomAD v2:
2-21225447-C-T
gnomAD v4:
2-21002575-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.21002575C>T , CM000664.2:g.21002575C>T | GRCh38 |
| NC_000002.11:g.21225447C>T , CM000664.1:g.21225447C>T | GRCh37 |
| NC_000002.10:g.21078952C>T | NCBI36 |
| NG_011793.1:g.46499G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000233242.5:c.12847G>A MANE Select | ENSP00000233242.1:p.Val4283Ile | |
| ENST00000616098.4:c.12847G>A | ENSP00000477990.1:p.Val4283Ile | |
| NM_000384.2:c.12847G>A | NP_000375.2:p.Val4283Ile | |
| XM_011532809.1:c.5870-3302G>A | XP_011531111.1:n.5870-3302G>A | |
| NM_000384.3:c.12847G>A MANE Select | NP_000375.3:p.Val4283Ile |