Linked Data
dbSNP Id:
rs1050409
ExAC:
6:31239501 G / T
gnomAD v2:
6-31239501-G-T
gnomAD v3:
6-31271724-G-T
gnomAD v4:
6-31271724-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271724G>T , CM000668.2:g.31271724G>T | GRCh38 |
| NC_000006.11:g.31239501G>T , CM000668.1:g.31239501G>T | GRCh37 |
| NC_000006.10:g.31347480G>T | NCBI36 |
| NG_029422.2:g.5408C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.218C>A MANE Select | ENSP00000365402.5:p.Ala73Glu | |
| ENST00000376228.9:c.218C>A | ENSP00000365402.5:p.Ala73Glu | |
| ENST00000376237.8:c.218C>A | ENSP00000365412.4:p.Ala73Glu | |
| ENST00000383329.7:c.218C>A | ENSP00000372819.3:p.Ala73Glu | |
| ENST00000415537.1:c.216C>A | ||
| ENST00000484378.1:n.237C>A | ||
| ENST00000487245.5:n.327C>A | ||
| ENST00000495835.1:n.407C>A | ||
| NM_002117.5:c.218C>A | NP_002108.4:p.Ala73Glu | |
| NM_002117.6:c.218C>A MANE Select | NP_002108.4:p.Ala73Glu |