Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74718804C= , CM000667.2:g.74718804C= | GRCh38 |
| NC_000005.9:g.74014629C= , CM000667.1:g.74014629C= | GRCh37 |
| NC_000005.8:g.74050385C= | NCBI36 |
| NG_009770.1:g.38661C= | |
| NG_009770.2:g.83782C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.1250C= MANE Select | NP_000512.2:p.Pro417= |
| ENST00000261416.12:c.1250C= MANE Select | ENSP00000261416.7:p.Pro417= |
| NM_000521.3:c.1250C= | NP_000512.1:p.Pro417= |
| NM_001292004.1:c.575C= | NP_001278933.1:p.Pro192= |
| NM_001292004.2:c.575C= | NP_001278933.1:p.Pro192= |
| ENST00000261416.11:c.1250C= | ENSP00000261416.7:p.Pro417= |
| ENST00000503312.5:c.126C= | |
| ENST00000504459.5:n.447C= | |
| ENST00000511181.5:c.575C= | ENSP00000426285.1:p.Pro192= |
| ENST00000513336.5:c.186C= | |
| ENST00000513539.1:n.74-105C= |