Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55151885G>C , CM000681.2:g.55151885G>C | GRCh38 |
| NC_000019.9:g.55663253G>C , CM000681.1:g.55663253G>C | GRCh37 |
| NC_000019.8:g.60355065G>C | NCBI36 |
| NG_007866.2:g.10848C>G , LRG_432:g.10848C>G | |
| NG_011829.2:g.2354C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344887.10:c.582C>G MANE Select | ENSP00000341838.5:p.Asn194Lys | |
| ENST00000665070.1:c.615C>G | ENSP00000499482.1:p.Asn205Lys | |
| ENST00000344887.9:c.582C>G | ENSP00000341838.5:p.Asn194Lys | |
| ENST00000585806.5:n.581C>G | ||
| ENST00000588882.1:c.507C>G | ENSP00000466729.1:p.Asn169Lys | |
| ENST00000589864.1:n.410C>G | ||
| NM_000363.4:c.582C>G , LRG_432t1:c.582C>G | NP_000354.4:p.Asn194Lys | |
| NM_000363.5:c.582C>G MANE Select | NP_000354.4:p.Asn194Lys |