Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.37715709T>C , CM000684.2:g.37715709T>C | GRCh38 |
| NC_000022.10:g.38111716T>C , CM000684.1:g.38111716T>C | GRCh37 |
| NC_000022.9:g.36441662T>C | NCBI36 |
| NG_012857.1:g.23722T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000644935.1:c.457-54T>C MANE Select | ENSP00000496394.1:n.457-54T>C | |
| ENST00000344404.10:c.255-54T>C | ENSP00000340312.6:n.255-54T>C | |
| ENST00000406386.7:c.457-54T>C | ENSP00000384312.3:n.457-54T>C | |
| ENST00000455236.4:c.1414-54T>C | ENSP00000477208.1:n.1414-54T>C | |
| ENST00000492485.5:n.391-54T>C | ||
| NM_001039141.2:c.457-54T>C | NP_001034230.1:n.457-54T>C | |
| NM_001039141.3:c.457-54T>C MANE Select | NP_001034230.1:n.457-54T>C |