Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.20638012G>C , CM000663.2:g.20638012G>C | GRCh38 |
| NC_000001.10:g.20964505G>C , CM000663.1:g.20964505G>C | GRCh37 |
| NC_000001.9:g.20837092G>C | NCBI36 |
| NG_008164.1:g.9558G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321556.5:c.558G>C MANE Select | ENSP00000364204.3:p.Lys186Asn | |
| ENST00000321556.4:c.558G>C | ENSP00000364204.3:p.Lys186Asn | |
| NM_032409.2:c.558G>C | NP_115785.1:p.Lys186Asn | |
| NM_032409.3:c.558G>C MANE Select | NP_115785.1:p.Lys186Asn |