Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.120693819G>A , CM000670.2:g.120693819G>A | GRCh38 |
| NC_000008.10:g.121706059G>A , CM000670.1:g.121706059G>A | GRCh37 |
| NC_000008.9:g.121775240G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000517992.2:c.661C>T MANE Select | ENSP00000431124.1:p.Arg221Trp | |
| ENST00000648490.1:c.661C>T | ENSP00000497707.1:p.Arg221Trp | |
| ENST00000395601.7:c.661C>T | ENSP00000378965.3:p.Arg221Trp | |
| ENST00000517992.1:c.661C>T | ENSP00000431124.1:p.Arg221Trp | |
| ENST00000519177.5:n.381C>T | ||
| ENST00000519298.1:n.90C>T | ||
| NM_021021.3:c.661C>T | NP_066301.1:p.Arg221Trp | |
| XM_011517239.1:c.661C>T | XP_011515541.1:p.Arg221Trp | |
| XM_011517239.2:c.661C>T | XP_011515541.1:p.Arg221Trp | |
| NM_021021.4:c.661C>T MANE Select | NP_066301.1:p.Arg221Trp |