Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.41926712G>C , CM000684.2:g.41926712G>C | GRCh38 |
| NC_000022.10:g.42322716G>C , CM000684.1:g.42322716G>C | GRCh37 |
| NC_000022.9:g.40652662G>C | NCBI36 |
| NG_007579.1:g.5106C>G , LRG_184:g.5106C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291232.5:c.62C>G MANE Select | ENSP00000291232.3:p.Pro21Arg | |
| ENST00000291232.4:c.62C>G | ENSP00000291232.3:p.Pro21Arg | |
| NM_052945.3:c.62C>G , LRG_184t1:c.62C>G | NP_443177.1:p.Pro21Arg | |
| NM_052945.4:c.62C>G MANE Select | NP_443177.1:p.Pro21Arg |