Linked Data
gnomAD v4:
6-31270321-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31270321C>G , CM000668.2:g.31270321C>G | GRCh38 |
| NC_000006.11:g.31238098C>G , CM000668.1:g.31238098C>G | GRCh37 |
| NC_000006.10:g.31346077C>G | NCBI36 |
| NG_029422.2:g.6811G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376228.10:c.784G>C MANE Select | ENSP00000365402.5:p.Asp262His | |
| ENST00000376228.9:c.784G>C | ENSP00000365402.5:p.Asp262His | |
| ENST00000376237.8:c.*371G>C | ENSP00000365412.4:n.*371G>C | |
| ENST00000383329.7:c.784G>C | ENSP00000372819.3:p.Asp262His | |
| ENST00000415537.1:c.675G>C | ||
| ENST00000470363.5:n.102G>C | ||
| ENST00000487245.5:n.1143G>C | ||
| ENST00000495835.1:n.973G>C | ||
| NM_002117.5:c.784G>C | NP_002108.4:p.Asp262His | |
| NM_002117.6:c.784G>C MANE Select | NP_002108.4:p.Asp262His |