Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.117703632T>G , CM000668.2:g.117703632T>G | GRCh38 |
| NC_000006.11:g.118024795T>G , CM000668.1:g.118024795T>G | GRCh37 |
| NC_000006.10:g.118131488T>G | NCBI36 |
| NG_054913.1:g.33179T>G | |
| NG_054913.2:g.33179T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_138459.5:c.719T>G MANE Select | NP_612468.1:p.Leu240Ter |
| ENST00000368494.4:c.719T>G MANE Select | ENSP00000357480.3:p.Leu240Ter |
| NM_138459.3:c.719T>G | NP_612468.1:p.Leu240Ter |
| NM_138459.4:c.719T>G | NP_612468.1:p.Leu240Ter |
| ENST00000368494.3:c.719T>G | ENSP00000357480.3:p.Leu240Ter |