Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.112831216C= , CM000664.2:g.112831216C= | GRCh38 |
| NC_000002.11:g.113588793C= , CM000664.1:g.113588793C= | GRCh37 |
| NC_000002.10:g.113305264C= | NCBI36 |
| NG_008851.1:g.10564G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000576.3:c.597+76G= MANE Select | NP_000567.1:n.597+76G= |
| ENST00000263341.7:c.597+76G= MANE Select | ENSP00000263341.2:n.597+76G= |
| NM_000576.2:c.597+76G= | NP_000567.1:n.597+76G= |
| ENST00000263341.6:c.597+76G= | ENSP00000263341.2:n.597+76G= |
| ENST00000487639.1:n.574G= | |
| ENST00000491056.5:n.1404+76G= | |
| XM_006712496.1:c.363+76G= | XP_006712559.1:n.363+76G= |
| XM_017003988.2:c.504+76G= | XP_016859477.1:n.504+76G= |