Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123272388T>C , CM000665.2:g.123272388T>C | GRCh38 |
| NC_000003.11:g.122991235T>C , CM000665.1:g.122991235T>C | GRCh37 |
| NC_000003.10:g.124473925T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012430.5:c.*666T>C MANE Select | NP_036562.2:n.*666T>C |
| ENST00000492595.6:c.*666T>C MANE Select | ENSP00000417972.1:n.*666T>C |
| NM_012430.4:c.*666T>C | NP_036562.2:n.*666T>C |
| ENST00000309934.4:c.*666T>C | ENSP00000310521.4:n.*666T>C |
| XM_011512673.3:c.*666T>C | XP_011510975.1:n.*666T>C |
| XM_011512675.3:c.*666T>C | XP_011510977.1:n.*666T>C |
| XM_011512676.3:c.*666T>C | XP_011510978.1:n.*666T>C |
| XR_924411.1:n.74+4550A>G |