Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.93218653A= , CM000676.2:g.93218653A= | GRCh38 |
| NC_000014.8:g.93684999A= , CM000676.1:g.93684999A= | GRCh37 |
| NC_000014.7:g.92754752A= | NCBI36 |
| NG_051089.1:g.16598A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000013070.11:c.728A= MANE Select | ENSP00000013070.6:p.Gln243= | |
| ENST00000013070.10:c.728A= | ENSP00000013070.6:p.Gln243= | |
| ENST00000416753.5:c.500A= | ENSP00000391706.2:p.Gln167= | |
| ENST00000553674.1:c.*429A= | ENSP00000450470.1:n.*429A= | |
| ENST00000553857.5:c.378+3372A= | ||
| ENST00000556871.5:c.437A= | ENSP00000451022.1:p.Gln146= | |
| NM_175748.3:c.728A= | NP_786924.2:p.Gln243= | |
| NR_038150.1:n.830A= | ||
| NM_175748.4:c.728A= MANE Select | NP_786924.2:p.Gln243= | |
| NR_038150.2:n.630A= |