Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154057C>G , CM000681.2:g.55154057C>G | GRCh38 |
| NC_000019.9:g.55665425C>G , CM000681.1:g.55665425C>G | GRCh37 |
| NC_000019.8:g.60357237C>G | NCBI36 |
| NG_007866.2:g.8676G>C , LRG_432:g.8676G>C | |
| NG_011829.2:g.182G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.522G>C MANE Select | ENSP00000341838.5:p.Lys174Asn | |
| ENST00000665070.1:c.555G>C | ENSP00000499482.1:p.Lys185Asn | |
| ENST00000344887.9:c.522G>C | ENSP00000341838.5:p.Lys174Asn | |
| ENST00000585806.5:n.521G>C | ||
| ENST00000588882.1:c.447G>C | ENSP00000466729.1:p.Lys149Asn | |
| ENST00000589864.1:n.350G>C | ||
| NM_000363.4:c.522G>C , LRG_432t1:c.522G>C | NP_000354.4:p.Lys174Asn | |
| NM_000363.5:c.522G>C MANE Select | NP_000354.4:p.Lys174Asn |