Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147824713T>C , CM000667.2:g.147824713T>C | GRCh38 |
| NC_000005.9:g.147204276T>C , CM000667.1:g.147204276T>C | GRCh37 |
| NC_000005.8:g.147184469T>C | NCBI36 |
| NG_008356.2:g.19519A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379610.1:c.195-7A>G MANE Select | NP_001366539.1:n.195-7A>G |
| ENST00000296695.10:c.195-7A>G MANE Select | ENSP00000296695.5:n.195-7A>G |
| NM_001354966.1:c.195-7A>G | NP_001341895.1:n.195-7A>G |
| NM_001354966.2:c.195-7A>G | NP_001341895.1:n.195-7A>G |
| NM_003122.4:c.195-7A>G | NP_003113.2:n.195-7A>G |
| NM_003122.5:c.195-7A>G | NP_003113.2:n.195-7A>G |
| ENST00000296695.9:c.195-7A>G | ENSP00000296695.5:n.195-7A>G |
| ENST00000505722.1:n.110-7A>G |