Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.145912279G>C , CM000663.2:g.145912279G>C | GRCh38 |
| NC_000001.10:g.145522801C>G , CM000663.1:g.145522801C>G | GRCh37 |
| NC_000001.9:g.144234158C>G | NCBI36 |
| NG_033000.3:g.11646C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369306.8:c.662C>G MANE Select | ENSP00000358312.3:p.Pro221Arg | |
| ENST00000369306.7:c.662C>G | ENSP00000358312.3:p.Pro221Arg | |
| ENST00000428634.1:c.128C>G | ENSP00000414018.1:p.Pro43Arg | |
| ENST00000537888.1:c.620C>G | ENSP00000437510.1:p.Pro207Arg | |
| NM_001184795.1:c.620C>G | NP_001171724.1:p.Pro207Arg | |
| NM_003846.2:c.662C>G | NP_003837.1:p.Pro221Arg | |
| NR_073491.1:n.894C>G | ||
| NR_073492.1:n.888C>G | ||
| NR_073493.2:n.1110C>G | ||
| NM_003846.3:c.662C>G MANE Select | NP_003837.1:p.Pro221Arg | |
| NR_073491.2:n.687C>G | ||
| NR_073492.2:n.681C>G |