Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.176780G>C , CM000678.2:g.176780G>C | GRCh38 |
| NC_000016.9:g.226779G>C , CM000678.1:g.226779G>C | GRCh37 |
| NC_000016.8:g.166779G>C | NCBI36 |
| NG_000006.1:g.37643G>C | |
| NG_059186.1:g.5130G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000558.5:c.64G>C MANE Select | NP_000549.1:p.Ala22Pro |
| ENST00000320868.9:c.64G>C MANE Select | ENSP00000322421.5:p.Ala22Pro |
| NM_000558.4:c.64G>C | NP_000549.1:p.Ala22Pro |
| ENST00000397797.1:c.-2+18G>C | ENSP00000380899.1:n.-2+18G>C |
| ENST00000472694.1:n.83G>C | |
| ENST00000487791.1:n.33G>C |