Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.147121075A= , CM000669.2:g.147121075A= | GRCh38 |
| NC_000007.13:g.146818167A= , CM000669.1:g.146818167A= | GRCh37 |
| NC_000007.12:g.146449100A= | NCBI36 |
| NG_007092.2:g.1009715A= | |
| NG_007092.3:g.1010075A= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014141.6:c.851A= MANE Select | NP_054860.1:p.Gln284= |
| ENST00000361727.8:c.851A= MANE Select | ENSP00000354778.3:p.Gln284= |
| NM_014141.5:c.851A= | NP_054860.1:p.Gln284= |
| ENST00000361727.7:c.851A= | ENSP00000354778.3:p.Gln284= |
| ENST00000636561.1:n.754A= | |
| ENST00000636870.1:n.713A= | |
| ENST00000637150.1:n.780A= | |
| ENST00000637555.1:n.509A= | |
| ENST00000637694.1:n.754A= | |
| ENST00000637825.1:n.334A= | |
| ENST00000638117.1:n.754A= | |
| XM_017011950.2:c.851A= | XP_016867439.1:p.Gln284= |