Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74713573T>G , CM000667.2:g.74713573T>G | GRCh38 |
| NC_000005.9:g.74009398T>G , CM000667.1:g.74009398T>G | GRCh37 |
| NC_000005.8:g.74045154T>G | NCBI36 |
| NG_009770.1:g.33430T>G | |
| NG_009770.2:g.78551T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.839T>G MANE Select | NP_000512.2:p.Leu280Ter |
| ENST00000261416.12:c.839T>G MANE Select | ENSP00000261416.7:p.Leu280Ter |
| NM_000521.3:c.839T>G | NP_000512.1:p.Leu280Ter |
| NM_001292004.1:c.164T>G | NP_001278933.1:p.Leu55Ter |
| NM_001292004.2:c.164T>G | NP_001278933.1:p.Leu55Ter |
| ENST00000261416.11:c.839T>G | ENSP00000261416.7:p.Leu280Ter |
| ENST00000504459.5:n.36T>G | |
| ENST00000511181.5:c.164T>G | ENSP00000426285.1:p.Leu55Ter |