Linked Data
dbSNP Id:
rs281860588
gnomAD v2:
6-31237271-C-T
gnomAD v3:
6-31269494-C-T
gnomAD v4:
6-31269494-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269494C>T , CM000668.2:g.31269494C>T | GRCh38 |
| NC_000006.11:g.31237271C>T , CM000668.1:g.31237271C>T | GRCh37 |
| NC_000006.10:g.31345250C>T | NCBI36 |
| NG_029422.2:g.7638G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1047G>A MANE Select | ENSP00000365402.5:p.Ala349= | |
| ENST00000376228.9:c.1047G>A | ENSP00000365402.5:p.Ala349= | |
| ENST00000376237.8:c.*634G>A | ENSP00000365412.4:n.*634G>A | |
| ENST00000383329.7:c.1065G>A | ENSP00000372819.3:p.Ala355= | |
| ENST00000466892.5:n.173G>A | ||
| ENST00000470363.5:n.805G>A | ||
| ENST00000487245.5:n.1406G>A | ||
| NM_002117.5:c.1047G>A | NP_002108.4:p.Ala349= | |
| NM_002117.6:c.1047G>A MANE Select | NP_002108.4:p.Ala349= |