Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78125042A>C , CM000685.2:g.78125042A>C | GRCh38 |
| NC_000023.10:g.77380539A>C , CM000685.1:g.77380539A>C | GRCh37 |
| NC_000023.9:g.77267195A>C | NCBI36 |
| NG_008862.1:g.25874A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.1105A>C MANE Select | ENSP00000362413.4:p.Thr369Pro | |
| ENST00000644362.1:c.1021A>C | ENSP00000496140.1:p.Thr341Pro | |
| ENST00000373316.4:c.1105A>C | ENSP00000362413.4:p.Thr369Pro | |
| ENST00000476531.1:n.99A>C | ||
| NM_000291.3:c.1105A>C | NP_000282.1:p.Thr369Pro | |
| NM_000291.4:c.1105A>C MANE Select | NP_000282.1:p.Thr369Pro |