Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1397462C>T , CM000681.2:g.1397462C>T | GRCh38 |
| NC_000019.9:g.1397461C>T , CM000681.1:g.1397461C>T | GRCh37 |
| NC_000019.8:g.1348461C>T | NCBI36 |
| NG_008283.1:g.18579C>T | |
| NG_009785.1:g.9092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252288.8:c.608G>A MANE Select | ENSP00000252288.1:p.Arg203Gln | |
| ENST00000640164.1:n.441G>A | ||
| ENST00000640762.1:c.539G>A | ENSP00000492031.1:p.Arg180Gln | |
| ENST00000252288.6:c.608G>A | ENSP00000252288.1:p.Arg203Gln | |
| NM_000156.5:c.608G>A | NP_000147.1:p.Arg203Gln | |
| NM_000156.6:c.608G>A MANE Select | NP_000147.1:p.Arg203Gln |