Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.34256113G>T , CM000679.2:g.34256113G>T | GRCh38 |
| NC_000017.10:g.32583132G>T , CM000679.1:g.32583132G>T | GRCh37 |
| NC_000017.9:g.29607245G>T | NCBI36 |
| NG_012123.1:g.5837G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002982.4:c.77-109G>T MANE Select | NP_002973.1:n.77-109G>T |
| ENST00000225831.4:c.77-109G>T MANE Select | ENSP00000225831.4:n.77-109G>T |
| NM_002982.3:c.77-109G>T | NP_002973.1:n.77-109G>T |
| ENST00000580907.5:c.77-109G>T | ENSP00000462156.1:n.77-109G>T |
| ENST00000580907.6:c.77-109G>T | ENSP00000462156.1:n.77-109G>T |
| ENST00000624362.1:n.896G>T | |
| ENST00000624362.2:n.829G>T |