Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50120312G>C , CM000676.2:g.50120312G>C | GRCh38 |
| NC_000014.8:g.50587030G>C , CM000676.1:g.50587030G>C | GRCh37 |
| NC_000014.7:g.49656780G>C | NCBI36 |
| NG_051073.1:g.116382C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.3452C>G MANE Select | ENSP00000216373.5:p.Pro1151Arg | |
| ENST00000216373.9:c.3452C>G | ENSP00000216373.5:p.Pro1151Arg | |
| ENST00000543680.5:c.3353C>G | ENSP00000445328.1:p.Pro1118Arg | |
| NM_006939.2:c.3452C>G | NP_008870.2:p.Pro1151Arg | |
| XM_005268021.1:c.3272C>G | XP_005268078.1:p.Pro1091Arg | |
| XM_011537103.1:c.3413C>G | XP_011535405.1:p.Pro1138Arg | |
| NM_006939.3:c.3452C>G | NP_008870.2:p.Pro1151Arg | |
| NM_006939.4:c.3452C>G MANE Select | NP_008870.2:p.Pro1151Arg |