Linked Data
gnomAD v4:
6-31268994-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31268994G>T , CM000668.2:g.31268994G>T | GRCh38 |
| NC_000006.11:g.31236771G>T , CM000668.1:g.31236771G>T | GRCh37 |
| NC_000006.10:g.31344750G>T | NCBI36 |
| NG_029422.2:g.8138C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.*175C>A MANE Select | ENSP00000365402.5:n.*175C>A | |
| ENST00000376228.9:c.*175C>A | ENSP00000365402.5:n.*175C>A | |
| ENST00000376237.8:c.*863C>A | ENSP00000365412.4:n.*863C>A | |
| ENST00000383329.7:c.*175C>A | ENSP00000372819.3:n.*175C>A | |
| ENST00000466892.5:n.509C>A | ||
| ENST00000470363.5:n.1034C>A | ||
| ENST00000487245.5:n.1635C>A | ||
| NM_002117.5:c.*175C>A | NP_002108.4:n.*175C>A | |
| NM_002117.6:c.*175C>A MANE Select | NP_002108.4:n.*175C>A |