Linked Data
ClinVar Variation Id:
2460362
ClinVar RCV Id:
RCV003174214
dbSNP Id:
rs371725015
ExAC:
9:77417079 C / A
gnomAD v2:
9-77417079-C-A
gnomAD v3:
9-74802163-C-A
gnomAD v4:
9-74802163-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74802163C>A , CM000671.2:g.74802163C>A | GRCh38 |
| NC_000009.11:g.77417079C>A , CM000671.1:g.77417079C>A | GRCh37 |
| NC_000009.10:g.76606899C>A | NCBI36 |
| NG_017036.1:g.90932G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360774.6:c.1744G>T MANE Select | ENSP00000354006.1:p.Val582Phe | |
| ENST00000360774.5:c.1744G>T | ENSP00000354006.1:p.Val582Phe | |
| ENST00000361255.7:c.1729G>T | ENSP00000354962.3:p.Val577Phe | |
| ENST00000449912.6:c.1729G>T | ENSP00000396672.2:p.Val577Phe | |
| NM_001177310.1:c.1729G>T | NP_001170781.1:p.Val577Phe | |
| NM_001177311.1:c.1729G>T | NP_001170782.1:p.Val577Phe | |
| NM_017662.4:c.1744G>T | NP_060132.3:p.Val582Phe | |
| XM_011518244.1:c.1744G>T | XP_011516546.1:p.Val582Phe | |
| XM_011518245.1:c.1651G>T | XP_011516547.1:p.Val551Phe | |
| XM_011518246.1:c.1744G>T | XP_011516548.1:p.Val582Phe | |
| XM_011518247.1:c.1744G>T | XP_011516549.1:p.Val582Phe | |
| XM_011518248.1:c.1603G>T | XP_011516550.1:p.Val535Phe | |
| XM_011518249.1:c.1510G>T | XP_011516551.1:p.Val504Phe | |
| XM_011518250.1:c.1744G>T | XP_011516552.1:p.Val582Phe | |
| XM_011518251.1:c.1015G>T | XP_011516553.1:p.Val339Phe | |
| XM_011518252.1:c.1744G>T | XP_011516554.1:p.Val582Phe | |
| XM_011518254.1:c.1744G>T | XP_011516556.1:p.Val582Phe | |
| XM_011518255.1:c.1744G>T | XP_011516557.1:p.Val582Phe | |
| XR_929716.1:n.1982G>T | ||
| XR_929717.1:n.1982G>T | ||
| XR_929718.1:n.1982G>T | ||
| XM_011518251.2:c.1015G>T | XP_011516553.1:p.Val339Phe | |
| XM_011518252.2:c.1744G>T | XP_011516554.1:p.Val582Phe | |
| XM_011518255.2:c.1744G>T | XP_011516557.1:p.Val582Phe | |
| XM_017014287.1:c.1510G>T | XP_016869776.1:p.Val504Phe | |
| XM_017014288.1:c.1510G>T | XP_016869777.1:p.Val504Phe | |
| XM_017014289.1:c.1744G>T | XP_016869778.1:p.Val582Phe | |
| XR_001746185.1:n.1982G>T | ||
| XR_929717.2:n.1982G>T | ||
| NM_017662.5:c.1744G>T MANE Select | NP_060132.3:p.Val582Phe | |
| NM_001177310.2:c.1729G>T | NP_001170781.1:p.Val577Phe | |
| NM_001177311.2:c.1729G>T | NP_001170782.1:p.Val577Phe |