Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.173080844G= , CM000665.2:g.173080844G= | GRCh38 |
| NC_000003.11:g.172798634G= , CM000665.1:g.172798634G= | GRCh37 |
| NC_000003.10:g.174281328G= | NCBI36 |
| NG_021422.1:g.65425C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000351008.4:c.613-31750C= MANE Select | ENSP00000341765.3:n.613-31750C= | |
| ENST00000351008.3:c.613-31750C= | ENSP00000341765.3:n.613-31750C= | |
| NM_031955.5:c.613-31750C= | NP_114161.3:n.613-31750C= | |
| XM_006713778.2:c.613-31750C= | XP_006713841.1:n.613-31750C= | |
| XM_011513222.1:c.613-31750C= | XP_011511524.1:n.613-31750C= | |
| XM_006713778.3:c.613-31750C= | XP_006713841.1:n.613-31750C= | |
| XM_017007308.2:c.613-31750C= | XP_016862797.1:n.613-31750C= | |
| NM_031955.6:c.613-31750C= MANE Select | NP_114161.3:n.613-31750C= |