Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46739330T>C , CM000673.2:g.46739330T>C | GRCh38 |
| NC_000011.9:g.46760880T>C , CM000673.1:g.46760880T>C | GRCh37 |
| NC_000011.8:g.46717456T>C | NCBI36 |
| NG_008953.1:g.25138T>C , LRG_551:g.25138T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000506.5:c.1791T>C MANE Select | NP_000497.1:p.Asp597= |
| ENST00000311907.10:c.1791T>C MANE Select | ENSP00000308541.5:p.Asp597= |
| NM_000506.3:c.1791T>C | NP_000497.1:p.Asp597= |
| NM_000506.4:c.1791T>C , LRG_551t1:c.1791T>C | NP_000497.1:p.Asp597= |
| NM_001311257.1:c.1743T>C | NP_001298186.1:p.Asp581= |
| NM_001311257.2:c.1743T>C | NP_001298186.1:p.Asp581= |
| ENST00000311907.9:c.1791T>C | ENSP00000308541.5:p.Asp597= |
| ENST00000530231.5:c.1674T>C | ENSP00000433907.1:p.Asp558= |
| XR_428840.2:n.1653T>C | |
| XR_428840.4:n.1644T>C |