Linked Data
dbSNP Id:
rs1323634603
gnomAD v2:
17-39739924-T-A
gnomAD v3:
17-41583672-T-A
gnomAD v4:
17-41583672-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41583672T>A , CM000679.2:g.41583672T>A | GRCh38 |
| NC_000017.10:g.39739924T>A , CM000679.1:g.39739924T>A | GRCh37 |
| NC_000017.9:g.36993450T>A | NCBI36 |
| NG_008624.1:g.8224A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000167586.7:c.932A>T MANE Select | ENSP00000167586.6:p.Glu311Val | |
| ENST00000167586.6:c.932A>T | ENSP00000167586.6:p.Glu311Val | |
| ENST00000476662.1:n.382A>T | ||
| NM_000526.4:c.932A>T | NP_000517.2:p.Glu311Val | |
| NM_000526.5:c.932A>T MANE Select | NP_000517.3:p.Glu311Val |