Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147830591A>C , CM000667.2:g.147830591A>C | GRCh38 |
| NC_000005.9:g.147210154A>C , CM000667.1:g.147210154A>C | GRCh37 |
| NC_000005.8:g.147190347A>C | NCBI36 |
| NG_008356.2:g.13641T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.55+932T>G MANE Select | ENSP00000296695.5:n.55+932T>G | |
| ENST00000296695.9:c.55+932T>G | ENSP00000296695.5:n.55+932T>G | |
| ENST00000510027.2:c.55+932T>G | ENSP00000427376.1:n.55+932T>G | |
| NM_003122.4:c.55+932T>G | NP_003113.2:n.55+932T>G | |
| NM_001354966.1:c.55+932T>G | NP_001341895.1:n.55+932T>G | |
| NM_001354966.2:c.55+932T>G | NP_001341895.1:n.55+932T>G | |
| NM_001379610.1:c.55+932T>G MANE Select | NP_001366539.1:n.55+932T>G | |
| NM_003122.5:c.55+932T>G | NP_003113.2:n.55+932T>G |