Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.38675814A= , CM000685.2:g.38675814A= | GRCh38 |
| NC_000023.10:g.38535068A= , CM000685.1:g.38535068A= | GRCh37 |
| NC_000023.9:g.38420012A= | NCBI36 |
| NG_009160.1:g.119338A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378482.7:c.551A= MANE Select | ENSP00000367743.2:p.Gln184= | |
| ENST00000286824.6:c.602A= | ENSP00000286824.6:p.Gln201= | |
| ENST00000378482.6:c.551A= | ENSP00000367743.2:p.Gln184= | |
| ENST00000419600.3:n.495A= | ||
| ENST00000465127.1:c.641A= | ENSP00000417050.1:p.Gln214= | |
| ENST00000471410.5:c.*577A= | ENSP00000419290.1:n.*577A= | |
| ENST00000475216.5:c.*544A= | ENSP00000418586.1:n.*544A= | |
| ENST00000488893.5:n.734A= | ||
| NM_004615.3:c.551A= | NP_004606.2:p.Gln184= | |
| NM_004615.4:c.551A= MANE Select | NP_004606.2:p.Gln184= |