Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110812476G>C , CM000672.2:g.110812476G>C | GRCh38 |
| NC_000010.10:g.112572234G>C , CM000672.1:g.112572234G>C | GRCh37 |
| NC_000010.9:g.112562224G>C | NCBI36 |
| NG_021177.1:g.173080G>C , LRG_382:g.173080G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.2079G>C MANE Select | ENSP00000358532.3:p.Trp693Cys | |
| ENST00000369519.3:c.2079G>C | ENSP00000358532.3:p.Trp693Cys | |
| NM_001134363.2:c.2079G>C | NP_001127835.2:p.Trp693Cys | |
| XM_011539697.1:c.1695G>C | XP_011537999.1:p.Trp565Cys | |
| XM_017016103.2:c.1914G>C | XP_016871592.1:p.Trp638Cys | |
| XM_017016104.2:c.1695G>C | XP_016871593.1:p.Trp565Cys | |
| NM_001134363.3:c.2079G>C MANE Select | NP_001127835.2:p.Trp693Cys |