Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.72122875G>C , CM000679.2:g.72122875G>C | GRCh38 |
| NC_000017.10:g.70119016G>C , CM000679.1:g.70119016G>C | GRCh37 |
| NC_000017.9:g.67630611G>C | NCBI36 |
| NG_012490.1:g.6856G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000245479.3:c.588G>C MANE Select | ENSP00000245479.2:p.Thr196= | |
| ENST00000245479.2:c.588G>C | ENSP00000245479.2:p.Thr196= | |
| NM_000346.3:c.588G>C | NP_000337.1:p.Thr196= | |
| NM_000346.4:c.588G>C MANE Select | NP_000337.1:p.Thr196= |