Linked Data
ClinVar Variation Id:
45733
ClinVar RCV Id:
RCV000038955
RCV000588424
RCV000699614
RCV000769246
RCV001161541
RCV001161542
RCV001199301
RCV001256863
RCV003162342
dbSNP Id:
rs201240745
ExAC:
7:151329211 G / C
gnomAD v2:
7-151329211-G-C
gnomAD v3:
7-151632125-G-C
gnomAD v4:
7-151632125-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151632125G>C , CM000669.2:g.151632125G>C | GRCh38 |
| NC_000007.13:g.151329211G>C , CM000669.1:g.151329211G>C | GRCh37 |
| NC_000007.12:g.150960144G>C | NCBI36 |
| NG_007486.1:g.250106C>G | |
| NG_007486.2:g.250107C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478989.7:c.-26C>G | ENSP00000420645.3:n.-26C>G | |
| ENST00000652321.2:c.698C>G | ENSP00000498886.2:p.Ala233Gly | |
| ENST00000287878.9:c.698C>G MANE Select | ENSP00000287878.3:p.Ala233Gly | |
| ENST00000476632.2:c.-26C>G | ENSP00000419493.2:n.-26C>G | |
| ENST00000491938.6:n.44C>G | ||
| ENST00000492843.6:c.326C>G | ENSP00000419577.2:p.Ala109Gly | |
| ENST00000650858.1:c.-29-36671C>G | ENSP00000498384.1:n.-29-36671C>G | |
| ENST00000650948.1:n.813C>G | ||
| ENST00000651188.1:c.553-36674C>G | ENSP00000498557.1:n.553-36674C>G | |
| ENST00000651303.1:c.566C>G | ENSP00000498428.1:p.Ala189Gly | |
| ENST00000651378.1:c.-26C>G | ENSP00000499103.1:n.-26C>G | |
| ENST00000651764.1:c.566C>G | ENSP00000498796.1:p.Ala189Gly | |
| ENST00000651836.1:c.469C>G | ENSP00000499156.1:n.469C>G | |
| ENST00000652047.1:c.566C>G | ENSP00000499111.1:p.Ala189Gly | |
| ENST00000652136.1:n.434C>G | ||
| ENST00000652159.1:c.566C>G | ENSP00000499025.1:p.Ala189Gly | |
| ENST00000652321.1:c.698C>G | ENSP00000498886.1:p.Ala233Gly | |
| ENST00000652397.1:c.-26C>G | ENSP00000498351.1:n.-26C>G | |
| ENST00000652572.1:n.79C>G | ||
| ENST00000652707.1:c.566C>G | ENSP00000498954.1:p.Ala189Gly | |
| ENST00000287878.8:c.698C>G | ENSP00000287878.3:p.Ala233Gly | |
| ENST00000392801.6:c.566C>G | ENSP00000376549.2:p.Ala189Gly | |
| ENST00000418337.6:c.-26C>G | ENSP00000387386.2:n.-26C>G | |
| ENST00000476632.1:c.-26C>G | ENSP00000419493.1:n.-26C>G | |
| ENST00000483775.1:n.103C>G | ||
| ENST00000488258.5:c.685-36671C>G | ENSP00000420783.1:n.685-36671C>G | |
| ENST00000491938.5:n.44C>G | ||
| ENST00000492843.5:c.326C>G | ENSP00000419577.1:p.Ala109Gly | |
| ENST00000493872.5:c.-26C>G | ENSP00000417252.1:n.-26C>G | |
| NM_001040633.1:c.566C>G | NP_001035723.1:p.Ala189Gly | |
| NM_001304527.1:c.326C>G | NP_001291456.1:p.Ala109Gly | |
| NM_001304531.1:c.-26C>G | NP_001291460.1:n.-26C>G | |
| NM_016203.3:c.698C>G | NP_057287.2:p.Ala233Gly | |
| NM_024429.1:c.-26C>G | NP_077747.1:n.-26C>G | |
| XM_005250002.2:c.698C>G | XP_005250059.1:p.Ala233Gly | |
| XM_005250004.2:c.566C>G | XP_005250061.1:p.Ala189Gly | |
| XM_005250006.3:c.326C>G | XP_005250063.1:p.Ala109Gly | |
| XM_006716021.2:c.686C>G | XP_006716084.1:p.Ala229Gly | |
| XM_011516282.1:c.686C>G | XP_011514584.1:p.Ala229Gly | |
| XM_011516283.1:c.686C>G | XP_011514585.1:p.Ala229Gly | |
| XM_011516284.1:c.686C>G | XP_011514586.1:p.Ala229Gly | |
| XM_011516285.1:c.-26C>G | XP_011514587.1:n.-26C>G | |
| XM_011516287.1:c.-29-36671C>G | XP_011514589.1:n.-29-36671C>G | |
| NM_001363698.1:c.326C>G | NP_001350627.1:p.Ala109Gly | |
| XM_005250002.4:c.698C>G | XP_005250059.1:p.Ala233Gly | |
| XM_005250004.4:c.566C>G | XP_005250061.1:p.Ala189Gly | |
| XM_005250006.5:c.326C>G | XP_005250063.1:p.Ala109Gly | |
| XM_011516285.2:c.-26C>G | XP_011514587.1:n.-26C>G | |
| XM_017012268.2:c.566C>G | XP_016867757.1:p.Ala189Gly | |
| XM_017012269.1:c.698C>G | XP_016867758.1:p.Ala233Gly | |
| XM_017012270.1:c.566C>G | XP_016867759.1:p.Ala189Gly | |
| XM_017012271.2:c.566C>G | XP_016867760.1:p.Ala189Gly | |
| XM_017012272.1:c.566C>G | XP_016867761.1:p.Ala189Gly | |
| XM_017012274.2:c.-26C>G | XP_016867763.1:n.-26C>G | |
| XM_017012275.2:c.-26-36674C>G | XP_016867764.1:n.-26-36674C>G | |
| XM_017012276.2:c.-26C>G | XP_016867765.1:n.-26C>G | |
| XM_017012278.1:c.-29-36671C>G | XP_016867767.1:n.-29-36671C>G | |
| XM_017012279.2:c.-29-36671C>G | XP_016867768.1:n.-29-36671C>G | |
| XM_017012280.2:c.-26-36674C>G | XP_016867769.1:n.-26-36674C>G | |
| XM_017012281.2:c.-26-36674C>G | XP_016867770.1:n.-26-36674C>G | |
| XM_024446786.1:c.566C>G | XP_024302554.1:p.Ala189Gly | |
| XM_024446787.1:c.-26C>G | XP_024302555.1:n.-26C>G | |
| XM_024446788.1:c.-26C>G | XP_024302556.1:n.-26C>G | |
| XM_024446789.1:c.-26C>G | XP_024302557.1:n.-26C>G | |
| NM_016203.4:c.698C>G MANE Select | NP_057287.2:p.Ala233Gly | |
| NM_001040633.2:c.566C>G | NP_001035723.1:p.Ala189Gly | |
| NM_001304527.2:c.326C>G | NP_001291456.1:p.Ala109Gly | |
| NM_001304531.2:c.-26C>G | NP_001291460.1:n.-26C>G | |
| NM_001363698.2:c.326C>G | NP_001350627.1:p.Ala109Gly | |
| NM_024429.2:c.-26C>G | NP_077747.1:n.-26C>G |