Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.130383733C>A , CM000669.2:g.130383733C>A | GRCh38 |
| NC_000007.13:g.130023574C>A , CM000669.1:g.130023574C>A | GRCh37 |
| NC_000007.12:g.129810810C>A | NCBI36 |
| NG_042276.1:g.8363C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001868.4:c.635C>A MANE Select | NP_001859.1:p.Thr212Asn |
| ENST00000011292.8:c.635C>A MANE Select | ENSP00000011292.3:p.Thr212Asn |
| NM_001868.3:c.635C>A | NP_001859.1:p.Thr212Asn |
| ENST00000011292.7:c.635C>A | ENSP00000011292.3:p.Thr212Asn |
| ENST00000470838.1:n.35C>A | |
| ENST00000476062.5:c.371C>A | ENSP00000419408.1:p.Thr124Asn |
| ENST00000484324.1:c.371C>A | ENSP00000419497.1:p.Thr124Asn |
| ENST00000491460.5:n.597C>A | |
| ENST00000604896.5:c.191C>A | ENSP00000475021.1:p.Thr64Asn |