Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.100856238C>T , CM000667.2:g.100856238C>T | GRCh38 |
| NC_000005.9:g.100191942C>T , CM000667.1:g.100191942C>T | GRCh37 |
| NC_000005.8:g.100219841C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005668.6:c.662G>A MANE Select | NP_005659.1:p.Ser221Asn |
| ENST00000231461.10:c.662G>A MANE Select | ENSP00000231461.4:p.Ser221Asn |
| NM_005668.5:c.662G>A | NP_005659.1:p.Ser221Asn |
| ENST00000231461.9:c.662G>A | ENSP00000231461.4:p.Ser221Asn |
| XM_005272078.1:c.662G>A | XP_005272135.1:p.Ser221Asn |
| XM_005272078.3:c.662G>A | XP_005272135.1:p.Ser221Asn |
| XM_011543630.1:c.503+30105G>A | XP_011541932.1:n.503+30105G>A |
| XM_011543630.2:c.503+30105G>A | XP_011541932.1:n.503+30105G>A |