Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6110485C>T , CM000674.2:g.6110485C>T | GRCh38 |
| NC_000012.11:g.6219651C>T , CM000674.1:g.6219651C>T | GRCh37 |
| NC_000012.10:g.6089912C>T | NCBI36 |
| NG_009072.1:g.19186G>A | |
| NG_009072.2:g.19186G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261405.10:c.421G>A MANE Select | ENSP00000261405.5:p.Asp141Asn | |
| ENST00000261405.9:c.421G>A | ENSP00000261405.5:p.Asp141Asn | |
| ENST00000321023.5:c.*480G>A | ENSP00000461331.1:n.*480G>A | |
| ENST00000538635.5:n.420+30G>A | ||
| NM_000552.3:c.421G>A | NP_000543.2:p.Asp141Asn | |
| NM_000552.4:c.421G>A | NP_000543.2:p.Asp141Asn | |
| NM_000552.5:c.421G>A MANE Select | NP_000543.3:p.Asp141Asn |