Linked Data
ClinVar Variation Id:
3038217
ClinVar RCV Id:
RCV003919704
dbSNP Id:
rs139659653
ExAC:
7:44578747 G / A
gnomAD v2:
7-44578747-G-A
gnomAD v3:
7-44539148-G-A
gnomAD v4:
7-44539148-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.44539148G>A , CM000669.2:g.44539148G>A | GRCh38 |
| NC_000007.13:g.44578747G>A , CM000669.1:g.44578747G>A | GRCh37 |
| NC_000007.12:g.44545272G>A | NCBI36 |
| NG_013088.1:g.7168C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381160.8:c.1249C>T MANE Select | ENSP00000370552.3:p.Arg417Trp | |
| ENST00000289547.8:c.1249C>T | ENSP00000289547.4:p.Arg417Trp | |
| ENST00000381160.7:c.1249C>T | ENSP00000370552.3:p.Arg417Trp | |
| ENST00000423141.1:c.1249C>T | ENSP00000404670.1:p.Arg417Trp | |
| ENST00000546276.5:c.1249C>T | ENSP00000438033.1:p.Arg417Trp | |
| NM_001101648.1:c.1249C>T | NP_001095118.1:p.Arg417Trp | |
| NM_001300967.1:c.1249C>T | NP_001287896.1:p.Arg417Trp | |
| NM_013389.2:c.1249C>T | NP_037521.2:p.Arg417Trp | |
| XM_011515326.1:c.1249C>T | XP_011513628.1:p.Arg417Trp | |
| XM_011515327.1:c.1249C>T | XP_011513629.1:p.Arg417Trp | |
| XM_011515328.1:c.-119C>T | XP_011513630.1:n.-119C>T | |
| XM_011515326.3:c.1249C>T | XP_011513628.1:p.Arg417Trp | |
| XM_011515328.2:c.-119C>T | XP_011513630.1:n.-119C>T | |
| XR_002956423.1:n.1641C>T | ||
| NM_001101648.2:c.1249C>T MANE Select | NP_001095118.1:p.Arg417Trp | |
| NM_001300967.2:c.1249C>T | NP_001287896.1:p.Arg417Trp | |
| NM_013389.3:c.1249C>T | NP_037521.2:p.Arg417Trp |