Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397447C>T , CM000681.2:g.1397447C>T | GRCh38 |
| NC_000019.9:g.1397446C>T , CM000681.1:g.1397446C>T | GRCh37 |
| NC_000019.8:g.1348446C>T | NCBI36 |
| NG_008283.1:g.18564C>T | |
| NG_009785.1:g.9107G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000156.6:c.623G>A MANE Select | NP_000147.1:p.Arg208His |
| ENST00000252288.8:c.623G>A MANE Select | ENSP00000252288.1:p.Arg208His |
| NM_000156.5:c.623G>A | NP_000147.1:p.Arg208His |
| ENST00000252288.6:c.623G>A | ENSP00000252288.1:p.Arg208His |
| ENST00000640164.1:n.456G>A | |
| ENST00000640762.1:c.554G>A | ENSP00000492031.1:p.Arg185His |