Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147831522C>A , CM000667.2:g.147831522C>A | GRCh38 |
| NC_000005.9:g.147211085C>A , CM000667.1:g.147211085C>A | GRCh37 |
| NC_000005.8:g.147191278C>A | NCBI36 |
| NG_008356.2:g.12710G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001379610.1:c.55+1G>T MANE Select | NP_001366539.1:n.55+1G>T |
| ENST00000296695.10:c.55+1G>T MANE Select | ENSP00000296695.5:n.55+1G>T |
| NM_001354966.1:c.55+1G>T | NP_001341895.1:n.55+1G>T |
| NM_001354966.2:c.55+1G>T | NP_001341895.1:n.55+1G>T |
| NM_003122.4:c.55+1G>T | NP_003113.2:n.55+1G>T |
| NM_003122.5:c.55+1G>T | NP_003113.2:n.55+1G>T |
| ENST00000296695.9:c.55+1G>T | ENSP00000296695.5:n.55+1G>T |
| ENST00000510027.2:c.55+1G>T | ENSP00000427376.1:n.55+1G>T |