Linked Data
dbSNP Id:
rs1432631845
gnomAD v2:
6-31239041-T-G
gnomAD v3:
6-31271264-T-G
gnomAD v4:
6-31271264-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31271264T>G , CM000668.2:g.31271264T>G | GRCh38 |
| NC_000006.11:g.31239041T>G , CM000668.1:g.31239041T>G | GRCh37 |
| NC_000006.10:g.31347020T>G | NCBI36 |
| NG_029422.2:g.5868A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.428A>C MANE Select | ENSP00000365402.5:p.Asp143Ala | |
| ENST00000376228.9:c.428A>C | ENSP00000365402.5:p.Asp143Ala | |
| ENST00000376237.8:c.*15A>C | ENSP00000365412.4:n.*15A>C | |
| ENST00000383329.7:c.428A>C | ENSP00000372819.3:p.Asp143Ala | |
| ENST00000415537.1:c.426A>C | ||
| ENST00000484378.1:n.697A>C | ||
| ENST00000487245.5:n.787A>C | ||
| ENST00000495835.1:n.617A>C | ||
| NM_002117.5:c.428A>C | NP_002108.4:p.Asp143Ala | |
| NM_002117.6:c.428A>C MANE Select | NP_002108.4:p.Asp143Ala |