Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000024.10:g.2866965T>C , CM000686.2:g.2866965T>C | GRCh38 |
| NC_000024.9:g.2735006T>C , CM000686.1:g.2735006T>C | GRCh37 |
| NC_000024.8:g.2795006T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250784.13:c.*71T>C MANE Select | ENSP00000250784.7:n.*71T>C | |
| ENST00000250784.12:c.*71T>C | ENSP00000250784.7:n.*71T>C | |
| ENST00000515575.1:n.42+12194T>C | ||
| NM_001008.4:c.*71T>C MANE Select | NP_000999.1:n.*71T>C |