Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130383407G>A , CM000669.2:g.130383407G>A | GRCh38 |
| NC_000007.13:g.130023248G>A , CM000669.1:g.130023248G>A | GRCh37 |
| NC_000007.12:g.129810484G>A | NCBI36 |
| NG_042276.1:g.8037G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.500G>A MANE Select | NP_001859.1:p.Ser167Asn |
| ENST00000011292.8:c.500G>A MANE Select | ENSP00000011292.3:p.Ser167Asn |
| NM_001868.3:c.500G>A | NP_001859.1:p.Ser167Asn |
| ENST00000011292.7:c.500G>A | ENSP00000011292.3:p.Ser167Asn |
| ENST00000476062.5:c.236G>A | ENSP00000419408.1:p.Ser79Asn |
| ENST00000481342.5:c.236G>A | ENSP00000420218.1:p.Ser79Asn |
| ENST00000484324.1:c.236G>A | ENSP00000419497.1:p.Ser79Asn |
| ENST00000491460.5:n.462G>A | |
| ENST00000604896.5:c.142-277G>A | ENSP00000475021.1:n.142-277G>A |