Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.80273876C>T , CM000672.2:g.80273876C>T | GRCh38 |
| NC_000010.10:g.82033632C>T , CM000672.1:g.82033632C>T | GRCh37 |
| NC_000010.9:g.82023612C>T | NCBI36 |
| NG_008083.1:g.20803G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372213.8:c.1093G>A MANE Select | ENSP00000361287.3:p.Asp365Asn | |
| ENST00000372213.7:c.1093G>A | ENSP00000361287.3:p.Asp365Asn | |
| ENST00000480845.1:n.325G>A | ||
| ENST00000485270.5:n.605G>A | ||
| NM_000429.2:c.1093G>A | NP_000420.1:p.Asp365Asn | |
| XM_005269842.3:c.1093G>A | XP_005269899.1:p.Asp365Asn | |
| XM_005269843.3:c.970G>A | XP_005269900.1:p.Asp324Asn | |
| NM_000429.3:c.1093G>A MANE Select | NP_000420.1:p.Asp365Asn |