Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154999496G>C , CM000685.2:g.154999496G>C | GRCh38 |
| NC_000023.10:g.154227771G>C , CM000685.1:g.154227771G>C | GRCh37 |
| NC_000023.9:g.153880965G>C | NCBI36 |
| NG_011403.1:g.28228C>G | |
| NG_011403.2:g.28228C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000132.4:c.248C>G MANE Select | NP_000123.1:p.Pro83Arg |
| ENST00000360256.9:c.248C>G MANE Select | ENSP00000353393.4:p.Pro83Arg |
| NM_000132.3:c.248C>G | NP_000123.1:p.Pro83Arg |
| ENST00000360256.8:c.248C>G | ENSP00000353393.4:p.Pro83Arg |
| ENST00000423959.5:c.143C>G | ENSP00000409446.1:p.Pro48Arg |
| ENST00000453950.1:c.230C>G | ENSP00000389153.1:p.Pro77Arg |
| ENST00000647125.1:c.*34C>G | ENSP00000496062.1:n.*34C>G |
| XM_011531126.1:c.143C>G | XP_011529428.1:p.Pro48Arg |