Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.164987229A>G , CM000665.2:g.164987229A>G | GRCh38 |
| NC_000003.11:g.164705017A>G , CM000665.1:g.164705017A>G | GRCh37 |
| NC_000003.10:g.166187711A>G | NCBI36 |
| NG_017043.1:g.96267T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264382.8:c.5109-3T>C MANE Select | ENSP00000264382.3:n.5109-3T>C | |
| ENST00000264382.7:c.5109-3T>C | ENSP00000264382.3:n.5109-3T>C | |
| NM_001041.3:c.5109-3T>C | NP_001032.2:n.5109-3T>C | |
| XM_011513078.1:c.5010-3T>C | XP_011511380.1:n.5010-3T>C | |
| XM_011513078.2:c.5010-3T>C | XP_011511380.1:n.5010-3T>C | |
| NM_001041.4:c.5109-3T>C MANE Select | NP_001032.2:n.5109-3T>C |