Linked Data
ClinVar Variation Id:
2550567
ClinVar RCV Id:
RCV004319927
dbSNP Id:
rs1305580696
gnomAD v2:
12-53684227-C-T
gnomAD v4:
12-53290443-C-T
COSMIC:
COSM1932809
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.53290443C>T , CM000674.2:g.53290443C>T | GRCh38 |
| NC_000012.11:g.53684227C>T , CM000674.1:g.53684227C>T | GRCh37 |
| NC_000012.10:g.51970494C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000257934.9:c.5338C>T MANE Select | ENSP00000257934.4:p.Arg1780Trp | |
| ENST00000257934.8:c.5338C>T | ENSP00000257934.4:p.Arg1780Trp | |
| ENST00000549154.1:n.2892C>T | ||
| ENST00000552462.1:c.5338C>T | ENSP00000449831.1:p.Arg1780Trp | |
| ENST00000552671.5:c.*5269C>T | ENSP00000447054.1:n.*5269C>T | |
| NM_012291.4:c.5338C>T | NP_036423.4:p.Arg1780Trp | |
| XM_006719705.2:c.5338C>T | XP_006719768.1:p.Arg1780Trp | |
| XM_011539024.1:c.5338C>T | XP_011537326.1:p.Arg1780Trp | |
| XM_011539025.1:c.5338C>T | XP_011537327.1:p.Arg1780Trp | |
| XM_006719705.3:c.5338C>T | XP_006719768.1:p.Arg1780Trp | |
| XM_011539024.2:c.5338C>T | XP_011537326.1:p.Arg1780Trp | |
| XM_011539025.2:c.5338C>T | XP_011537327.1:p.Arg1780Trp | |
| XM_017020253.1:c.4363C>T | XP_016875742.1:p.Arg1455Trp | |
| NM_012291.5:c.5338C>T MANE Select | NP_036423.4:p.Arg1780Trp |