Linked Data
ClinVar Variation Id:
518717
dbSNP Id:
rs61744760
ExAC:
7:151254316 C / T
gnomAD v3:
7-151557230-C-T
gnomAD v4:
7-151557230-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151557230C>T , CM000669.2:g.151557230C>T | GRCh38 |
| NC_000007.13:g.151254316C>T , CM000669.1:g.151254316C>T | GRCh37 |
| NC_000007.12:g.150885249C>T | NCBI36 |
| NG_007486.1:g.325001G>A | |
| NG_007486.2:g.325002G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478989.7:c.*417G>A | ENSP00000420645.3:n.*417G>A | |
| ENST00000652321.2:c.1678G>A | ENSP00000498886.2:p.Ala560Thr | |
| ENST00000287878.9:c.1681G>A MANE Select | ENSP00000287878.3:p.Ala561Thr | |
| ENST00000476632.2:c.958G>A | ENSP00000419493.2:p.Ala320Thr | |
| ENST00000492843.6:c.1306G>A | ENSP00000419577.2:p.Ala436Thr | |
| ENST00000650664.1:n.1396G>A | ||
| ENST00000650851.1:n.1175G>A | ||
| ENST00000650858.1:c.898G>A | ENSP00000498384.1:p.Ala300Thr | |
| ENST00000650948.1:n.4067G>A | ||
| ENST00000651188.1:c.*794G>A | ENSP00000498557.1:n.*794G>A | |
| ENST00000651303.1:c.*1000G>A | ENSP00000498428.1:n.*1000G>A | |
| ENST00000651378.1:c.958G>A | ENSP00000499103.1:p.Ala320Thr | |
| ENST00000651764.1:c.1549G>A | ENSP00000498796.1:p.Ala517Thr | |
| ENST00000651836.1:c.1871G>A | ENSP00000499156.1:n.1871G>A | |
| ENST00000651954.1:n.1897G>A | ||
| ENST00000652047.1:c.1546G>A | ENSP00000499111.1:p.Ala516Thr | |
| ENST00000652136.1:n.2228G>A | ||
| ENST00000652159.1:c.1549G>A | ENSP00000499025.1:p.Ala517Thr | |
| ENST00000652397.1:c.*417G>A | ENSP00000498351.1:n.*417G>A | |
| ENST00000287878.8:c.1681G>A | ENSP00000287878.3:p.Ala561Thr | |
| ENST00000392801.6:c.1549G>A | ENSP00000376549.2:p.Ala517Thr | |
| ENST00000418337.6:c.958G>A | ENSP00000387386.2:p.Ala320Thr | |
| ENST00000479461.1:n.333G>A | ||
| ENST00000492843.5:c.1309G>A | ENSP00000419577.1:p.Ala437Thr | |
| NM_001040633.1:c.1549G>A | NP_001035723.1:p.Ala517Thr | |
| NM_001304527.1:c.1306G>A | NP_001291456.1:p.Ala436Thr | |
| NM_001304531.1:c.958G>A | NP_001291460.1:p.Ala320Thr | |
| NM_016203.3:c.1681G>A | NP_057287.2:p.Ala561Thr | |
| NM_024429.1:c.958G>A | NP_077747.1:p.Ala320Thr | |
| XM_005250002.2:c.*3112G>A | XP_005250059.1:n.*3112G>A | |
| XM_005250004.2:c.*3112G>A | XP_005250061.1:n.*3112G>A | |
| XM_005250006.3:c.*3112G>A | XP_005250063.1:n.*3112G>A | |
| XM_006716021.2:c.*3112G>A | XP_006716084.1:n.*3112G>A | |
| XM_011516282.1:c.*3112G>A | XP_011514584.1:n.*3112G>A | |
| XM_011516283.1:c.1669G>A | XP_011514585.1:p.Ala557Thr | |
| XM_011516284.1:c.1666G>A | XP_011514586.1:p.Ala556Thr | |
| XM_011516285.1:c.*3112G>A | XP_011514587.1:n.*3112G>A | |
| XM_011516286.1:c.*3112G>A | XP_011514588.1:n.*3112G>A | |
| XM_011516287.1:c.*3112G>A | XP_011514589.1:n.*3112G>A | |
| NM_001363698.1:c.1309G>A | NP_001350627.1:p.Ala437Thr | |
| XM_005250002.4:c.*3112G>A | XP_005250059.1:n.*3112G>A | |
| XM_005250004.4:c.*3112G>A | XP_005250061.1:n.*3112G>A | |
| XM_005250006.5:c.*3112G>A | XP_005250063.1:n.*3112G>A | |
| XM_011516285.2:c.*3112G>A | XP_011514587.1:n.*3112G>A | |
| XM_011516286.2:c.*3112G>A | XP_011514588.1:n.*3112G>A | |
| XM_017012268.2:c.*3112G>A | XP_016867757.1:n.*3112G>A | |
| XM_017012269.1:c.1678G>A | XP_016867758.1:p.Ala560Thr | |
| XM_017012270.1:c.1549G>A | XP_016867759.1:p.Ala517Thr | |
| XM_017012271.2:c.1546G>A | XP_016867760.1:p.Ala516Thr | |
| XM_017012272.1:c.1546G>A | XP_016867761.1:p.Ala516Thr | |
| XM_017012274.2:c.*3112G>A | XP_016867763.1:n.*3112G>A | |
| XM_017012275.2:c.*3112G>A | XP_016867764.1:n.*3112G>A | |
| XM_017012276.2:c.955G>A | XP_016867765.1:p.Ala319Thr | |
| XM_017012277.2:c.934G>A | XP_016867766.1:p.Ala312Thr | |
| XM_017012278.1:c.898G>A | XP_016867767.1:p.Ala300Thr | |
| XM_017012279.2:c.898G>A | XP_016867768.1:p.Ala300Thr | |
| XM_017012280.2:c.898G>A | XP_016867769.1:p.Ala300Thr | |
| XM_017012281.2:c.898G>A | XP_016867770.1:p.Ala300Thr | |
| XM_024446786.1:c.*3112G>A | XP_024302554.1:n.*3112G>A | |
| XM_024446787.1:c.*3112G>A | XP_024302555.1:n.*3112G>A | |
| XM_024446788.1:c.*3112G>A | XP_024302556.1:n.*3112G>A | |
| XM_024446789.1:c.958G>A | XP_024302557.1:p.Ala320Thr | |
| NM_016203.4:c.1681G>A MANE Select | NP_057287.2:p.Ala561Thr | |
| NM_001040633.2:c.1549G>A | NP_001035723.1:p.Ala517Thr | |
| NM_001304527.2:c.1306G>A | NP_001291456.1:p.Ala436Thr | |
| NM_001304531.2:c.958G>A | NP_001291460.1:p.Ala320Thr | |
| NM_001363698.2:c.1309G>A | NP_001350627.1:p.Ala437Thr | |
| NM_024429.2:c.958G>A | NP_077747.1:p.Ala320Thr |