Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55157084T>G , CM000681.2:g.55157084T>G | GRCh38 |
| NC_000019.9:g.55668452T>G , CM000681.1:g.55668452T>G | GRCh37 |
| NC_000019.8:g.60360264T>G | NCBI36 |
| NG_007866.2:g.5649A>C , LRG_432:g.5649A>C | |
| NG_032759.1:g.14639A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.74A>C MANE Select | ENSP00000341838.5:p.Asn25Thr | |
| ENST00000665070.1:c.74A>C | ENSP00000499482.1:p.Asn25Thr | |
| ENST00000344887.9:c.74A>C | ENSP00000341838.5:p.Asn25Thr | |
| ENST00000586446.1:n.216A>C | ||
| ENST00000586669.5:n.82A>C | ||
| ENST00000587176.5:n.258A>C | ||
| ENST00000587871.1:c.693A>C | ||
| ENST00000590463.1:n.246A>C | ||
| NM_000363.4:c.74A>C , LRG_432t1:c.74A>C | NP_000354.4:p.Asn25Thr | |
| NM_000363.5:c.74A>C MANE Select | NP_000354.4:p.Asn25Thr |