Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67437057T>C , CM000678.2:g.67437057T>C | GRCh38 |
| NC_000016.9:g.67470960T>C , CM000678.1:g.67470960T>C | GRCh37 |
| NC_000016.8:g.66028461T>C | NCBI36 |
| NG_011482.1:g.49130A>G | |
| NG_016549.1:g.10925T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000326152.6:c.*54T>C MANE Select | ENSP00000316786.5:n.*54T>C | |
| ENST00000326152.5:c.*54T>C | ENSP00000316786.5:n.*54T>C | |
| NM_000196.3:c.*54T>C | NP_000187.3:n.*54T>C | |
| NM_000196.4:c.*54T>C MANE Select | NP_000187.3:n.*54T>C |