Linked Data
ClinVar Variation Id:
2867686
ClinVar RCV Id:
RCV003702887
dbSNP Id:
rs750187638
ExAC:
7:70242125 G / A
gnomAD v2:
7-70242125-G-A
gnomAD v3:
7-70777139-G-A
gnomAD v4:
7-70777139-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.70777139G>A , CM000669.2:g.70777139G>A | GRCh38 |
| NC_000007.13:g.70242125G>A , CM000669.1:g.70242125G>A | GRCh37 |
| NC_000007.12:g.69880061G>A | NCBI36 |
| NG_034133.1:g.1183221G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700075.1:c.37G>A | ENSP00000514784.1:p.Ala13Thr | |
| ENST00000342771.10:c.1969G>A MANE Select | ENSP00000344087.4:p.Ala657Thr | |
| ENST00000439256.2:c.67G>A | ENSP00000407058.2:p.Ala23Thr | |
| ENST00000443672.2:c.304G>A | ENSP00000393548.2:p.Ala102Thr | |
| ENST00000449547.6:c.62G>A | ||
| ENST00000464768.2:n.637G>A | ||
| ENST00000644359.1:c.550G>A | ENSP00000494561.1:p.Ala184Thr | |
| ENST00000644506.1:c.595G>A | ENSP00000496672.1:p.Ala199Thr | |
| ENST00000644939.1:c.1966G>A | ENSP00000496726.1:p.Ala656Thr | |
| ENST00000646136.1:n.280G>A | ||
| ENST00000647140.1:c.834G>A | ||
| ENST00000342771.8:c.1969G>A | ENSP00000344087.4:p.Ala657Thr | |
| ENST00000406775.6:c.1897G>A | ENSP00000385263.2:p.Ala633Thr | |
| ENST00000439256.1:c.67G>A | ||
| ENST00000464768.1:n.635G>A | ||
| ENST00000465899.1:n.466G>A | ||
| ENST00000498384.5:n.337G>A | ||
| ENST00000611706.4:c.1225G>A | ENSP00000478134.1:p.Ala409Thr | |
| ENST00000615871.4:c.1153G>A | ENSP00000479325.1:p.Ala385Thr | |
| NM_001127231.2:c.1897G>A | NP_001120703.1:p.Ala633Thr | |
| NM_015570.3:c.1969G>A | NP_056385.1:p.Ala657Thr | |
| XM_005250257.1:c.616G>A | XP_005250314.1:p.Ala206Thr | |
| XM_011516010.1:c.1990G>A | XP_011514312.1:p.Ala664Thr | |
| XM_011516011.1:c.1987G>A | XP_011514313.1:p.Ala663Thr | |
| XM_011516012.1:c.1924G>A | XP_011514314.1:p.Ala642Thr | |
| XM_011516013.1:c.1918G>A | XP_011514315.1:p.Ala640Thr | |
| XM_011516014.1:c.1888G>A | XP_011514316.1:p.Ala630Thr | |
| XM_011516015.1:c.1726G>A | XP_011514317.1:p.Ala576Thr | |
| XM_011516016.1:c.1699G>A | XP_011514318.1:p.Ala567Thr | |
| XM_011516017.1:c.1516G>A | XP_011514319.1:p.Ala506Thr | |
| XM_011516018.1:c.1489G>A | XP_011514320.1:p.Ala497Thr | |
| XM_005250257.2:c.616G>A | XP_005250314.1:p.Ala206Thr | |
| XM_011516010.2:c.1990G>A | XP_011514312.1:p.Ala664Thr | |
| XM_011516011.2:c.1987G>A | XP_011514313.1:p.Ala663Thr | |
| XM_011516012.2:c.1924G>A | XP_011514314.1:p.Ala642Thr | |
| XM_011516013.2:c.1918G>A | XP_011514315.1:p.Ala640Thr | |
| XM_011516014.2:c.1888G>A | XP_011514316.1:p.Ala630Thr | |
| XM_011516017.2:c.1516G>A | XP_011514319.1:p.Ala506Thr | |
| XM_011516018.2:c.1489G>A | XP_011514320.1:p.Ala497Thr | |
| XM_017011951.2:c.1990G>A | XP_016867440.1:p.Ala664Thr | |
| NM_001127231.3:c.1897G>A | NP_001120703.1:p.Ala633Thr | |
| NM_015570.4:c.1969G>A MANE Select | NP_056385.1:p.Ala657Thr |