Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.134456999C= , CM000664.2:g.134456999C= | GRCh38 |
| NC_000002.11:g.135214570C= , CM000664.1:g.135214570C= | GRCh37 |
| NC_000002.10:g.134931040C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_030923.5:c.810-223G= MANE Select | NP_112185.1:n.810-223G= |
| ENST00000281924.6:c.810-223G= MANE Select | ENSP00000281924.6:n.810-223G= |
| NM_030923.4:c.810-223G= | NP_112185.1:n.810-223G= |
| ENST00000467316.1:n.1244-223G= | |
| ENST00000476823.1:n.4066-223G= | |
| XM_011511949.1:c.630-223G= | XP_011510251.1:n.630-223G= |
| XM_011511950.1:c.477-223G= | XP_011510252.1:n.477-223G= |
| XM_011511950.2:c.477-223G= | XP_011510252.1:n.477-223G= |
| XM_017005061.1:c.477-223G= | XP_016860550.1:n.477-223G= |