Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134408169C= , CM000671.2:g.134408169C= | GRCh38 |
| NC_000009.11:g.137300015C= , CM000671.1:g.137300015C= | GRCh37 |
| NC_000009.10:g.136439836C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481739.2:c.300C= MANE Select | ENSP00000419692.1:p.Pro100= | |
| ENST00000672570.1:c.219C= | ENSP00000500402.1:p.Pro73= | |
| ENST00000356384.4:n.710C= | ||
| ENST00000481739.1:c.300C= | ENSP00000419692.1:p.Pro100= | |
| NM_001291920.1:c.219C= | NP_001278849.1:p.Pro73= | |
| NM_001291921.1:c.9C= | NP_001278850.1:p.Pro3= | |
| NM_002957.5:c.300C= | NP_002948.1:p.Pro100= | |
| NM_002957.6:c.300C= MANE Select | NP_002948.1:p.Pro100= | |
| NM_001291921.2:c.9C= | NP_001278850.1:p.Pro3= | |
| NM_001291920.2:c.219C= | NP_001278849.1:p.Pro73= |