Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68690950C>G , CM000673.2:g.68690950C>G | GRCh38 |
| NC_000011.9:g.68458418C>G , CM000673.1:g.68458418C>G | GRCh37 |
| NC_000011.8:g.68214994C>G | NCBI36 |
| NG_052785.1:g.11476C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_015973.5:c.335C>G MANE Select | NP_057057.2:p.Pro112Arg |
| ENST00000265643.4:c.335C>G MANE Select | ENSP00000265643.3:p.Pro112Arg |
| NM_015973.3:c.335C>G | NP_057057.2:p.Pro112Arg |
| NM_015973.4:c.335C>G | NP_057057.2:p.Pro112Arg |
| ENST00000265643.3:c.335C>G | ENSP00000265643.3:p.Pro112Arg |