Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.74685445T>G , CM000667.2:g.74685445T>G | GRCh38 |
| NC_000005.9:g.73981270T>G , CM000667.1:g.73981270T>G | GRCh37 |
| NC_000005.8:g.74017026T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000521.4:c.185T>G MANE Select | NP_000512.2:p.Leu62Trp |
| ENST00000261416.12:c.185T>G MANE Select | ENSP00000261416.7:p.Leu62Trp |
| NM_001292004.1:c.-376-3883T>G | NP_001278933.1:n.-376-3883T>G |
| NM_001292004.2:c.-376-3883T>G | NP_001278933.1:n.-376-3883T>G |
| ENST00000261416.11:c.185T>G | ENSP00000261416.7:p.Leu62Trp |
| ENST00000511181.5:c.-376-3883T>G | ENSP00000426285.1:n.-376-3883T>G |
| ENST00000513079.5:n.250T>G | |
| ENST00000515528.1:n.240T>G |