Linked Data
ClinVar Variation Id:
3581
ClinVar RCV Id:
RCV000003764
dbSNP Id:
rs121912623
gnomAD v2:
9-77427238-G-A
gnomAD v4:
9-74812322-G-A
PubMed:
PMID:12032570
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74812322G>A , CM000671.2:g.74812322G>A | GRCh38 |
| NC_000009.11:g.77427238G>A , CM000671.1:g.77427238G>A | GRCh37 |
| NC_000009.10:g.76617058G>A | NCBI36 |
| NG_017036.1:g.80773C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360774.6:c.1420C>T MANE Select | ENSP00000354006.1:p.Arg474Ter | |
| ENST00000360774.5:c.1420C>T | ENSP00000354006.1:p.Arg474Ter | |
| ENST00000361255.7:c.1405C>T | ENSP00000354962.3:p.Arg469Ter | |
| ENST00000449912.6:c.1405C>T | ENSP00000396672.2:p.Arg469Ter | |
| NM_001177310.1:c.1405C>T | NP_001170781.1:p.Arg469Ter | |
| NM_001177311.1:c.1405C>T | NP_001170782.1:p.Arg469Ter | |
| NM_017662.4:c.1420C>T | NP_060132.3:p.Arg474Ter | |
| XM_011518244.1:c.1420C>T | XP_011516546.1:p.Arg474Ter | |
| XM_011518245.1:c.1420C>T | XP_011516547.1:p.Arg474Ter | |
| XM_011518246.1:c.1420C>T | XP_011516548.1:p.Arg474Ter | |
| XM_011518247.1:c.1420C>T | XP_011516549.1:p.Arg474Ter | |
| XM_011518248.1:c.1420C>T | XP_011516550.1:p.Arg474Ter | |
| XM_011518249.1:c.1420C>T | XP_011516551.1:p.Arg474Ter | |
| XM_011518250.1:c.1420C>T | XP_011516552.1:p.Arg474Ter | |
| XM_011518251.1:c.691C>T | XP_011516553.1:p.Arg231Ter | |
| XM_011518252.1:c.1420C>T | XP_011516554.1:p.Arg474Ter | |
| XM_011518254.1:c.1420C>T | XP_011516556.1:p.Arg474Ter | |
| XM_011518255.1:c.1420C>T | XP_011516557.1:p.Arg474Ter | |
| XR_929716.1:n.1658C>T | ||
| XR_929717.1:n.1658C>T | ||
| XR_929718.1:n.1658C>T | ||
| XM_011518251.2:c.691C>T | XP_011516553.1:p.Arg231Ter | |
| XM_011518252.2:c.1420C>T | XP_011516554.1:p.Arg474Ter | |
| XM_011518255.2:c.1420C>T | XP_011516557.1:p.Arg474Ter | |
| XM_017014287.1:c.1420C>T | XP_016869776.1:p.Arg474Ter | |
| XM_017014288.1:c.1420C>T | XP_016869777.1:p.Arg474Ter | |
| XM_017014289.1:c.1420C>T | XP_016869778.1:p.Arg474Ter | |
| XR_001746185.1:n.1658C>T | ||
| XR_929717.2:n.1658C>T | ||
| NM_017662.5:c.1420C>T MANE Select | NP_060132.3:p.Arg474Ter | |
| NM_001177310.2:c.1405C>T | NP_001170781.1:p.Arg469Ter | |
| NM_001177311.2:c.1405C>T | NP_001170782.1:p.Arg469Ter |