Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110601970T>G , CM000672.2:g.110601970T>G | GRCh38 |
| NC_000010.10:g.112361728T>G , CM000672.1:g.112361728T>G | GRCh37 |
| NC_000010.9:g.112351718T>G | NCBI36 |
| NG_012217.1:g.39280T>G , LRG_774:g.39280T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005445.4:c.2897T>G MANE Select | NP_005436.1:p.Phe966Cys |
| ENST00000361804.5:c.2897T>G MANE Select | ENSP00000354720.5:p.Phe966Cys |
| NM_005445.3:c.2897T>G , LRG_774t1:c.2897T>G | NP_005436.1:p.Phe966Cys |
| ENST00000361804.4:c.2897T>G | ENSP00000354720.4:p.Phe966Cys |
| ENST00000684988.1:n.5130T>G | |
| ENST00000685743.1:n.2605T>G | |
| ENST00000686057.1:n.1248T>G | |
| ENST00000689321.1:n.1860T>G | |
| ENST00000689986.1:n.686T>G |