Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114323246G>C , CM000671.2:g.114323246G>C | GRCh38 |
| NC_000009.11:g.117085526G>C , CM000671.1:g.117085526G>C | GRCh37 |
| NC_000009.10:g.116125347G>C | NCBI36 |
| NG_012108.1:g.5224G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000607.4:c.113G>C MANE Select | NP_000598.2:p.Arg38Pro |
| ENST00000259396.9:c.113G>C MANE Select | ENSP00000259396.8:p.Arg38Pro |
| NM_000607.2:c.113G>C | NP_000598.2:p.Arg38Pro |
| NM_000607.3:c.113G>C | NP_000598.2:p.Arg38Pro |
| ENST00000259396.8:c.113G>C | ENSP00000259396.8:p.Arg38Pro |