Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.15445687A= , CM000663.2:g.15445687A= | GRCh38 |
| NC_000001.10:g.15772182A= , CM000663.1:g.15772182A= | GRCh37 |
| NC_000001.9:g.15644769A= | NCBI36 |
| NG_009253.1:g.12245A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375949.5:c.730A= MANE Select | ENSP00000365116.4:p.Asn244= | |
| ENST00000375943.6:c.*184A= | ENSP00000365110.2:n.*184A= | |
| ENST00000375949.4:c.730A= | ENSP00000365116.4:p.Asn244= | |
| ENST00000483406.1:n.494A= | ||
| NM_007272.2:c.730A= | NP_009203.2:p.Asn244= | |
| XM_011540550.1:c.584A= | XP_011538852.1:p.Gln195= | |
| NM_007272.3:c.730A= MANE Select | NP_009203.2:p.Asn244= |