Linked Data
gnomAD v4:
6-31269513-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269513C>G , CM000668.2:g.31269513C>G | GRCh38 |
| NC_000006.11:g.31237290C>G , CM000668.1:g.31237290C>G | GRCh37 |
| NC_000006.10:g.31345269C>G | NCBI36 |
| NG_029422.2:g.7619G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.1028G>C MANE Select | ENSP00000365402.5:p.Gly343Ala | |
| ENST00000376228.9:c.1028G>C | ENSP00000365402.5:p.Gly343Ala | |
| ENST00000376237.8:c.*615G>C | ENSP00000365412.4:n.*615G>C | |
| ENST00000383329.7:c.1046G>C | ENSP00000372819.3:p.Gly349Ala | |
| ENST00000466892.5:n.154G>C | ||
| ENST00000470363.5:n.786G>C | ||
| ENST00000487245.5:n.1387G>C | ||
| NM_002117.5:c.1028G>C | NP_002108.4:p.Gly343Ala | |
| NM_002117.6:c.1028G>C MANE Select | NP_002108.4:p.Gly343Ala |