Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.96398982T>G , CM000667.2:g.96398982T>G | GRCh38 |
| NC_000005.9:g.95734686T>G , CM000667.1:g.95734686T>G | GRCh37 |
| NC_000005.8:g.95760442T>G | NCBI36 |
| NG_021161.1:g.39300A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311106.8:c.1485A>C MANE Select | ENSP00000308024.2:p.Glu495Asp | |
| ENST00000311106.7:c.1485A>C | ENSP00000308024.2:p.Glu495Asp | |
| ENST00000508626.5:c.1344A>C | ENSP00000421600.1:p.Glu448Asp | |
| ENST00000513085.1:n.628A>C | ||
| NM_000439.4:c.1485A>C | NP_000430.3:p.Glu495Asp | |
| NM_001177875.1:c.1344A>C | NP_001171346.1:p.Glu448Asp | |
| NR_130776.1:n.354+19330T>G | ||
| NM_000439.5:c.1485A>C MANE Select | NP_000430.3:p.Glu495Asp | |
| NM_001177875.2:c.1344A>C | NP_001171346.1:p.Glu448Asp |