Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147132248A= , CM000669.2:g.147132248A= | GRCh38 |
| NC_000007.13:g.146829340A= , CM000669.1:g.146829340A= | GRCh37 |
| NC_000007.12:g.146460273A= | NCBI36 |
| NG_007092.2:g.1020888A= | |
| NG_007092.3:g.1021248A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361727.8:c.1087A= MANE Select | ENSP00000354778.3:p.Asn363= | |
| ENST00000636561.1:n.990A= | ||
| ENST00000636870.1:n.949A= | ||
| ENST00000637150.1:n.1016A= | ||
| ENST00000637694.1:n.990A= | ||
| ENST00000637825.1:n.570A= | ||
| ENST00000638117.1:n.990A= | ||
| ENST00000361727.7:c.1087A= | ENSP00000354778.3:p.Asn363= | |
| NM_014141.5:c.1087A= | NP_054860.1:p.Asn363= | |
| XM_017011950.2:c.1087A= | XP_016867439.1:p.Asn363= | |
| NM_014141.6:c.1087A= MANE Select | NP_054860.1:p.Asn363= |