Linked Data
gnomAD v4:
6-31269171-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31269171A>G , CM000668.2:g.31269171A>G | GRCh38 |
| NC_000006.11:g.31236948A>G , CM000668.1:g.31236948A>G | GRCh37 |
| NC_000006.10:g.31344927A>G | NCBI36 |
| NG_029422.2:g.7961T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000376228.10:c.1099T>C MANE Select | ENSP00000365402.5:p.Ter367Arg | |
| ENST00000376228.9:c.1099T>C | ENSP00000365402.5:p.Ter367Arg | |
| ENST00000376237.8:c.*686T>C | ENSP00000365412.4:n.*686T>C | |
| ENST00000383329.7:c.1117T>C | ENSP00000372819.3:p.Ter373Arg | |
| ENST00000466892.5:n.332T>C | ||
| ENST00000470363.5:n.857T>C | ||
| ENST00000487245.5:n.1458T>C | ||
| NM_002117.5:c.1099T>C | NP_002108.4:p.Ter367Arg | |
| NM_002117.6:c.1099T>C MANE Select | NP_002108.4:p.Ter367Arg |