Linked Data
ClinVar Variation Id:
347083
dbSNP Id:
rs147428514
ExAC:
4:103556064 G / A
gnomAD v2:
4-103556064-G-A
gnomAD v3:
4-102634907-G-A
gnomAD v4:
4-102634907-G-A
COSMIC:
COSM4158714
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.102634907G>A , CM000666.2:g.102634907G>A | GRCh38 |
| NC_000004.11:g.103556064G>A , CM000666.1:g.103556064G>A | GRCh37 |
| NC_000004.10:g.103775112G>A | NCBI36 |
| NG_012804.1:g.131088C>T | |
| NG_012804.2:g.131088C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000642252.1:c.2434C>T | ENSP00000495483.1:p.Arg812Trp | |
| ENST00000644159.1:c.2296C>T | ENSP00000494462.1:p.Arg766Trp | |
| ENST00000644545.1:c.*936C>T | ENSP00000493992.1:n.*936C>T | |
| ENST00000645348.1:c.*1318C>T | ENSP00000495363.1:n.*1318C>T | |
| ENST00000645558.1:c.1964C>T | ||
| ENST00000646311.1:c.*1416C>T | ENSP00000493465.1:n.*1416C>T | |
| ENST00000646727.1:c.*1150C>T | ENSP00000493519.1:n.*1150C>T | |
| ENST00000647097.2:c.2296C>T MANE Select | ENSP00000495247.1:p.Arg766Trp | |
| ENST00000647129.1:c.2385C>T | ENSP00000496137.1:n.2385C>T | |
| ENST00000226578.8:c.2296C>T | ENSP00000226578.4:p.Arg766Trp | |
| ENST00000505239.1:c.2125C>T | ENSP00000427322.1:p.Arg709Trp | |
| ENST00000514430.5:n.6531C>T | ||
| NM_005908.3:c.2296C>T | NP_005899.3:p.Arg766Trp | |
| XM_011531965.1:c.1390C>T | XP_011530267.1:p.Arg464Trp | |
| XM_011531966.1:c.1051C>T | XP_011530268.1:p.Arg351Trp | |
| XM_017008203.1:c.1933C>T | XP_016863692.1:p.Arg645Trp | |
| XM_017008204.2:c.1648C>T | XP_016863693.1:p.Arg550Trp | |
| XM_017008205.2:c.1090C>T | XP_016863694.1:p.Arg364Trp | |
| XM_024454048.1:c.2221C>T | XP_024309816.1:p.Arg741Trp | |
| XM_024454049.1:c.1933C>T | XP_024309817.1:p.Arg645Trp | |
| NM_005908.4:c.2296C>T MANE Select | NP_005899.3:p.Arg766Trp |