Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.99949591A>C , CM000666.2:g.99949591A>C | GRCh38 |
| NC_000004.11:g.100870748A>C , CM000666.1:g.100870748A>C | GRCh37 |
| NC_000004.10:g.101089771A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296417.6:c.81+72T>G MANE Select | ENSP00000296417.5:n.81+72T>G | |
| ENST00000651623.1:c.81+72T>G | ENSP00000498935.1:n.81+72T>G | |
| ENST00000296417.5:c.81+72T>G | ENSP00000296417.5:n.81+72T>G | |
| ENST00000511203.1:n.709T>G | ||
| ENST00000511319.5:n.606+72T>G | ||
| ENST00000511348.1:n.338T>G | ||
| ENST00000527366.1:n.165+72T>G | ||
| ENST00000529158.5:n.130+72T>G | ||
| NM_002106.3:c.81+72T>G | NP_002097.1:n.81+72T>G | |
| NM_002106.4:c.81+72T>G MANE Select | NP_002097.1:n.81+72T>G |