Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.610107G>C , CM000682.2:g.610107G>C | GRCh38 |
| NC_000020.10:g.590751G>C , CM000682.1:g.590751G>C | GRCh37 |
| NC_000020.9:g.538751G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004609.4:c.131C>G MANE Select | NP_004600.3:p.Pro44Arg |
| ENST00000246080.4:c.131C>G MANE Select | ENSP00000246080.3:p.Pro44Arg |
| NM_004609.3:c.131C>G | NP_004600.2:p.Pro44Arg |
| ENST00000246080.3:c.131C>G | ENSP00000246080.3:p.Pro44Arg |
| ENST00000621005.1:c.131C>G | ENSP00000483116.1:p.Pro44Arg |