Linked Data
ClinVar Variation Id:
1920506
ClinVar RCV Id:
RCV002591194
dbSNP Id:
rs1168949001
gnomAD v4:
1-43338687-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.43338687C>T , CM000663.2:g.43338687C>T | GRCh38 |
| NC_000001.10:g.43804358C>T , CM000663.1:g.43804358C>T | GRCh37 |
| NC_000001.9:g.43576945C>T | NCBI36 |
| NG_007525.1:g.5884C>T , LRG_510:g.5884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372470.9:c.358C>T MANE Select | ENSP00000361548.3:p.Arg120Trp | |
| ENST00000413998.7:c.337C>T | ENSP00000414004.3:p.Arg113Trp | |
| ENST00000638732.1:n.358C>T | ||
| ENST00000372470.7:c.358C>T | ENSP00000361548.3:p.Arg120Trp | |
| ENST00000413998.6:c.358C>T | ENSP00000414004.2:p.Arg120Trp | |
| ENST00000612993.1:c.358C>T | ENSP00000480273.1:p.Arg120Trp | |
| NM_005373.2:c.358C>T , LRG_510t1:c.358C>T | NP_005364.1:p.Arg120Trp | |
| XM_011541478.1:c.337C>T | XP_011539780.1:p.Arg113Trp | |
| XM_017001320.1:c.529C>T | XP_016856809.1:p.Arg177Trp | |
| NM_005373.3:c.358C>T MANE Select | NP_005364.1:p.Arg120Trp |