Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133642351G>C , CM000671.2:g.133642351G>C | GRCh38 |
| NC_000009.11:g.136507473G>C , CM000671.1:g.136507473G>C | GRCh37 |
| NC_000009.10:g.135497294G>C | NCBI36 |
| NG_008645.1:g.10989G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000787.4:c.631G>C MANE Select | NP_000778.3:p.Ala211Pro |
| ENST00000393056.8:c.631G>C MANE Select | ENSP00000376776.2:p.Ala211Pro |
| NM_000787.3:c.631G>C | NP_000778.3:p.Ala211Pro |
| ENST00000263611.2:c.442G>C | ENSP00000263611.2:p.Ala148Pro |
| ENST00000263611.3:c.478G>C | ENSP00000263611.3:p.Ala160Pro |
| ENST00000393056.6:c.631G>C | ENSP00000376776.2:p.Ala211Pro |