Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.190387991T>C , CM000665.2:g.190387991T>C | GRCh38 |
| NC_000003.11:g.190105780T>C , CM000665.1:g.190105780T>C | GRCh37 |
| NC_000003.10:g.191588474T>C | NCBI36 |
| NG_008149.1:g.4940T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264734.2:c.-129T>C | ENSP00000264734.2:n.-129T>C | |
| ENST00000468220.1:n.306+13388T>C | ||
| NM_006580.3:c.-129T>C | NP_006571.1:n.-129T>C | |
| NM_001378492.1:c.-93-246T>C | NP_001365421.1:n.-93-246T>C | |
| NM_001378493.1:c.-93-246T>C | NP_001365422.1:n.-93-246T>C |