Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190409896C>T , CM000665.2:g.190409896C>T | GRCh38 |
| NC_000003.11:g.190127685C>T , CM000665.1:g.190127685C>T | GRCh37 |
| NC_000003.10:g.191610379C>T | NCBI36 |
| NG_008149.1:g.26845C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006580.4:c.575-7C>T MANE Select | NP_006571.2:n.575-7C>T |
| ENST00000264734.3:c.575-7C>T MANE Select | ENSP00000264734.3:n.575-7C>T |
| NM_001378492.1:c.575-7C>T | NP_001365421.1:n.575-7C>T |
| NM_001378493.1:c.575-7C>T | NP_001365422.1:n.575-7C>T |
| NM_006580.3:c.785-7C>T | NP_006571.1:n.785-7C>T |
| ENST00000264734.2:c.785-7C>T | ENSP00000264734.2:n.785-7C>T |
| ENST00000456423.1:c.325-7C>T | ENSP00000414136.1:n.325-7C>T |
| ENST00000456423.2:c.115-7C>T | ENSP00000414136.2:n.115-7C>T |