Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80476433C>G , CM000679.2:g.80476433C>G | GRCh38 |
| NC_000017.10:g.78450233C>G , CM000679.1:g.78450233C>G | GRCh37 |
| NC_000017.9:g.76064828C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002522.4:c.14G>C MANE Select | NP_002513.2:p.Arg5Pro |
| ENST00000306773.5:c.14G>C MANE Select | ENSP00000307549.4:p.Arg5Pro |
| NM_002522.3:c.14G>C | NP_002513.2:p.Arg5Pro |
| ENST00000306773.4:c.14G>C | ENSP00000307549.4:p.Arg5Pro |
| ENST00000575212.1:n.234-715G>C |