Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.147828151T>A , CM000667.2:g.147828151T>A | GRCh38 |
| NC_000005.9:g.147207714T>A , CM000667.1:g.147207714T>A | GRCh37 |
| NC_000005.8:g.147187907T>A | NCBI36 |
| NG_008356.2:g.16081A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296695.10:c.88-23A>T MANE Select | ENSP00000296695.5:n.88-23A>T | |
| ENST00000296695.9:c.88-23A>T | ENSP00000296695.5:n.88-23A>T | |
| ENST00000510027.2:c.88-23A>T | ENSP00000427376.1:n.88-23A>T | |
| NM_003122.4:c.88-23A>T | NP_003113.2:n.88-23A>T | |
| NM_001354966.1:c.88-23A>T | NP_001341895.1:n.88-23A>T | |
| NM_001354966.2:c.88-23A>T | NP_001341895.1:n.88-23A>T | |
| NM_001379610.1:c.88-23A>T MANE Select | NP_001366539.1:n.88-23A>T | |
| NM_003122.5:c.88-23A>T | NP_003113.2:n.88-23A>T |