Linked Data
ClinVar Variation Id:
367299
dbSNP Id:
rs56290308
ExAC:
9:77357506 G / A
gnomAD v2:
9-77357506-G-A
gnomAD v3:
9-74742590-G-A
gnomAD v4:
9-74742590-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.74742590G>A , CM000671.2:g.74742590G>A | GRCh38 |
| NC_000009.11:g.77357506G>A , CM000671.1:g.77357506G>A | GRCh37 |
| NC_000009.10:g.76547326G>A | NCBI36 |
| NG_017036.1:g.150505C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360774.6:c.5171C>T MANE Select | ENSP00000354006.1:p.Thr1724Ile | |
| ENST00000360774.5:c.5171C>T | ENSP00000354006.1:p.Thr1724Ile | |
| ENST00000361255.7:c.5156C>T | ENSP00000354962.3:p.Thr1719Ile | |
| ENST00000449912.6:c.5156C>T | ENSP00000396672.2:p.Thr1719Ile | |
| NM_001177310.1:c.5156C>T | NP_001170781.1:p.Thr1719Ile | |
| NM_001177311.1:c.5156C>T | NP_001170782.1:p.Thr1719Ile | |
| NM_017662.4:c.5171C>T | NP_060132.3:p.Thr1724Ile | |
| XM_011518244.1:c.5171C>T | XP_011516546.1:p.Thr1724Ile | |
| XM_011518245.1:c.5078C>T | XP_011516547.1:p.Thr1693Ile | |
| XM_011518246.1:c.5171C>T | XP_011516548.1:p.Thr1724Ile | |
| XM_011518247.1:c.5042C>T | XP_011516549.1:p.Thr1681Ile | |
| XM_011518248.1:c.5030C>T | XP_011516550.1:p.Thr1677Ile | |
| XM_011518249.1:c.4937C>T | XP_011516551.1:p.Thr1646Ile | |
| XM_011518250.1:c.4895C>T | XP_011516552.1:p.Thr1632Ile | |
| XM_011518251.1:c.4442C>T | XP_011516553.1:p.Thr1481Ile | |
| XM_011518253.1:c.3104C>T | XP_011516555.1:p.Thr1035Ile | |
| XR_929716.1:n.5409C>T | ||
| XM_011518251.2:c.4442C>T | XP_011516553.1:p.Thr1481Ile | |
| XM_017014287.1:c.4808C>T | XP_016869776.1:p.Thr1603Ile | |
| XM_017014288.1:c.4661C>T | XP_016869777.1:p.Thr1554Ile | |
| XR_001746185.1:n.5409C>T | ||
| NM_017662.5:c.5171C>T MANE Select | NP_060132.3:p.Thr1724Ile | |
| NM_001177310.2:c.5156C>T | NP_001170781.1:p.Thr1719Ile | |
| NM_001177311.2:c.5156C>T | NP_001170782.1:p.Thr1719Ile |