Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72123562G>C , CM000679.2:g.72123562G>C | GRCh38 |
| NC_000017.10:g.70119703G>C , CM000679.1:g.70119703G>C | GRCh37 |
| NC_000017.9:g.67631298G>C | NCBI36 |
| NG_012490.1:g.7543G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.705G>C MANE Select | ENSP00000245479.2:p.Pro235= | |
| ENST00000245479.2:c.705G>C | ENSP00000245479.2:p.Pro235= | |
| NM_000346.3:c.705G>C | NP_000337.1:p.Pro235= | |
| NM_000346.4:c.705G>C MANE Select | NP_000337.1:p.Pro235= |