Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.140528179T>C , CM000665.2:g.140528179T>C | GRCh38 |
| NC_000003.11:g.140247021T>C , CM000665.1:g.140247021T>C | GRCh37 |
| NC_000003.10:g.141729711T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000458420.7:c.1345-4145T>C MANE Select | ENSP00000402460.2:n.1345-4145T>C | |
| ENST00000511524.1:n.1533-4145T>C | ||
| ENST00000620185.1:c.1153-4145T>C | ENSP00000478883.1:n.1153-4145T>C | |
| NM_022131.2:c.1345-4145T>C | NP_071414.2:n.1345-4145T>C | |
| XM_017007022.2:c.1270-4145T>C | XP_016862511.1:n.1270-4145T>C | |
| NM_022131.3:c.1345-4145T>C MANE Select | NP_071414.2:n.1345-4145T>C |