Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.109871912T>C , CM000666.2:g.109871912T>C | GRCh38 |
| NC_000004.11:g.110793068T>C , CM000666.1:g.110793068T>C | GRCh37 |
| NC_000004.10:g.111012517T>C | NCBI36 |
| NG_033249.1:g.28729T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198506.5:c.*1123T>C MANE Select | NP_940908.3:n.*1123T>C |
| ENST00000594814.6:c.*1123T>C MANE Select | ENSP00000469759.1:n.*1123T>C |
| NM_198506.4:c.*1123T>C | NP_940908.3:n.*1123T>C |
| ENST00000327908.3:c.*1123T>C | ENSP00000328222.3:n.*1123T>C |
| ENST00000594814.5:c.3163T>C | ENSP00000469759.1:n.3163T>C |
| XM_005262979.2:c.*1123T>C | XP_005263036.1:n.*1123T>C |