Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1106785T>C , CM000681.2:g.1106785T>C | GRCh38 |
| NC_000019.9:g.1106784T>C , CM000681.1:g.1106784T>C | GRCh37 |
| NC_000019.8:g.1057784T>C | NCBI36 |
| NG_050621.1:g.7860T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354171.12:c.*213T>C | ENSP00000346103.7:n.*213T>C | |
| ENST00000588919.5:c.*19T>C | ENSP00000464989.3:n.*19T>C | |
| ENST00000592940.2:n.1178T>C | ||
| ENST00000616066.4:c.*213T>C | ENSP00000485000.1:n.*213T>C | |
| ENST00000622390.4:c.*213T>C | ENSP00000477503.1:n.*213T>C | |
| NM_001039847.2:c.*145T>C | NP_001034936.1:n.*145T>C | |
| NM_001039848.2:c.*213T>C | NP_001034937.1:n.*213T>C | |
| NM_002085.4:c.*213T>C | NP_002076.2:n.*213T>C | |
| NM_001039848.3:c.*213T>C | NP_001034937.1:n.*213T>C |