Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1103996T>C , CM000681.2:g.1103996T>C | GRCh38 |
| NC_000019.9:g.1103995T>C , CM000681.1:g.1103995T>C | GRCh37 |
| NC_000019.8:g.1054995T>C | NCBI36 |
| NG_050621.1:g.5071T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706713.1:c.-48T>C | ENSP00000516510.1:n.-48T>C | |
| ENST00000354171.13:c.-48T>C MANE Select | ENSP00000346103.7:n.-48T>C | |
| ENST00000354171.12:c.-48T>C | ENSP00000346103.7:n.-48T>C | |
| ENST00000616066.4:c.-48T>C | ENSP00000485000.1:n.-48T>C | |
| NM_001039847.2:c.-48T>C | NP_001034936.1:n.-48T>C | |
| NM_002085.4:c.-48T>C | NP_002076.2:n.-48T>C | |
| NM_001039847.3:c.-48T>C | NP_001034936.1:n.-48T>C | |
| NM_002085.5:c.-48T>C MANE Select | NP_002076.2:n.-48T>C |