Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.78123359A>T , CM000685.2:g.78123359A>T | GRCh38 |
| NC_000023.10:g.77378856A>T , CM000685.1:g.77378856A>T | GRCh37 |
| NC_000023.9:g.77265512A>T | NCBI36 |
| NG_008862.1:g.24191A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373316.5:c.921A>T MANE Select | ENSP00000362413.4:p.Ile307= | |
| ENST00000644362.1:c.837A>T | ENSP00000496140.1:p.Ile279= | |
| ENST00000373316.4:c.921A>T | ENSP00000362413.4:p.Ile307= | |
| NM_000291.3:c.921A>T | NP_000282.1:p.Ile307= | |
| NM_000291.4:c.921A>T MANE Select | NP_000282.1:p.Ile307= |