Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55052364G>A , CM000663.2:g.55052364G>A | GRCh38 |
| NC_000001.10:g.55518037G>A , CM000663.1:g.55518037G>A | GRCh37 |
| NC_000001.9:g.55290625G>A | NCBI36 |
| NG_009061.1:g.17818G>A , LRG_275:g.17818G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174936.4:c.610G>A MANE Select | NP_777596.2:p.Asp204Asn |
| ENST00000302118.5:c.610G>A MANE Select | ENSP00000303208.5:p.Asp204Asn |
| NM_174936.3:c.610G>A , LRG_275t1:c.610G>A | NP_777596.2:p.Asp204Asn |
| NR_110451.1:n.269G>A | |
| NR_110451.2:n.269G>A | |
| ENST00000490692.1:n.1431G>A | |
| ENST00000673726.1:c.*106G>A | ENSP00000501004.1:n.*106G>A |
| ENST00000673903.1:c.235G>A | ENSP00000501257.1:p.Asp79Asn |
| ENST00000673913.2:c.610G>A | ENSP00000501161.2:p.Asp204Asn |
| ENST00000710286.1:c.967G>A | ENSP00000518176.1:p.Asp323Asn |