Linked Data
ClinVar Variation Id:
227880
ClinVar RCV Id:
RCV000215275
RCV000879780
RCV001158338
RCV001158337
RCV001189150
RCV001529588
RCV002372219
RCV003997713
dbSNP Id:
rs764162597
ExAC:
7:151272001 T / C
gnomAD v2:
7-151272001-T-C
gnomAD v3:
7-151574915-T-C
gnomAD v4:
7-151574915-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151574915T>C , CM000669.2:g.151574915T>C | GRCh38 |
| NC_000007.13:g.151272001T>C , CM000669.1:g.151272001T>C | GRCh37 |
| NC_000007.12:g.150902934T>C | NCBI36 |
| NG_007486.1:g.307316A>G | |
| NG_007486.2:g.307317A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478989.7:c.255A>G | ENSP00000420645.3:p.Leu85= | |
| ENST00000652321.2:c.978A>G | ENSP00000498886.2:p.Leu326= | |
| ENST00000287878.9:c.981A>G MANE Select | ENSP00000287878.3:p.Leu327= | |
| ENST00000476632.2:c.258A>G | ENSP00000419493.2:p.Leu86= | |
| ENST00000478989.6:c.41A>G | ||
| ENST00000491938.6:n.324A>G | ||
| ENST00000492843.6:c.606A>G | ENSP00000419577.2:p.Leu202= | |
| ENST00000650851.1:n.475A>G | ||
| ENST00000650858.1:c.198A>G | ENSP00000498384.1:p.Leu66= | |
| ENST00000650948.1:n.1096A>G | ||
| ENST00000651188.1:c.*221A>G | ENSP00000498557.1:n.*221A>G | |
| ENST00000651290.1:n.148+1456A>G | ||
| ENST00000651303.1:c.*300A>G | ENSP00000498428.1:n.*300A>G | |
| ENST00000651378.1:c.258A>G | ENSP00000499103.1:p.Leu86= | |
| ENST00000651764.1:c.849A>G | ENSP00000498796.1:p.Leu283= | |
| ENST00000651836.1:c.749A>G | ENSP00000499156.1:n.749A>G | |
| ENST00000652047.1:c.846A>G | ENSP00000499111.1:p.Leu282= | |
| ENST00000652136.1:n.714A>G | ||
| ENST00000652159.1:c.849A>G | ENSP00000499025.1:p.Leu283= | |
| ENST00000652397.1:c.258A>G | ENSP00000498351.1:p.Leu86= | |
| ENST00000652572.1:n.362A>G | ||
| ENST00000287878.8:c.981A>G | ENSP00000287878.3:p.Leu327= | |
| ENST00000392801.6:c.849A>G | ENSP00000376549.2:p.Leu283= | |
| ENST00000418337.6:c.258A>G | ENSP00000387386.2:p.Leu86= | |
| ENST00000476632.1:c.258A>G | ENSP00000419493.1:p.Leu86= | |
| ENST00000478989.5:c.33A>G | ENSP00000420645.1:p.Leu11= | |
| ENST00000488258.5:c.*221A>G | ENSP00000420783.1:n.*221A>G | |
| ENST00000491938.5:n.327A>G | ||
| ENST00000492843.5:c.609A>G | ENSP00000419577.1:p.Leu203= | |
| ENST00000493872.5:c.*230A>G | ENSP00000417252.1:n.*230A>G | |
| NM_001040633.1:c.849A>G | NP_001035723.1:p.Leu283= | |
| NM_001304527.1:c.606A>G | NP_001291456.1:p.Leu202= | |
| NM_001304531.1:c.258A>G | NP_001291460.1:p.Leu86= | |
| NM_016203.3:c.981A>G | NP_057287.2:p.Leu327= | |
| NM_024429.1:c.258A>G | NP_077747.1:p.Leu86= | |
| XM_005250002.2:c.981A>G | XP_005250059.1:p.Leu327= | |
| XM_005250004.2:c.849A>G | XP_005250061.1:p.Leu283= | |
| XM_005250006.3:c.609A>G | XP_005250063.1:p.Leu203= | |
| XM_006716021.2:c.969A>G | XP_006716084.1:p.Leu323= | |
| XM_011516282.1:c.966A>G | XP_011514584.1:p.Leu322= | |
| XM_011516283.1:c.969A>G | XP_011514585.1:p.Leu323= | |
| XM_011516284.1:c.966A>G | XP_011514586.1:p.Leu322= | |
| XM_011516285.1:c.258A>G | XP_011514587.1:p.Leu86= | |
| XM_011516286.1:c.234A>G | XP_011514588.1:p.Leu78= | |
| XM_011516287.1:c.198A>G | XP_011514589.1:p.Leu66= | |
| NM_001363698.1:c.609A>G | NP_001350627.1:p.Leu203= | |
| XM_005250002.4:c.981A>G | XP_005250059.1:p.Leu327= | |
| XM_005250004.4:c.849A>G | XP_005250061.1:p.Leu283= | |
| XM_005250006.5:c.609A>G | XP_005250063.1:p.Leu203= | |
| XM_011516285.2:c.258A>G | XP_011514587.1:p.Leu86= | |
| XM_011516286.2:c.234A>G | XP_011514588.1:p.Leu78= | |
| XM_017012268.2:c.846A>G | XP_016867757.1:p.Leu282= | |
| XM_017012269.1:c.978A>G | XP_016867758.1:p.Leu326= | |
| XM_017012270.1:c.849A>G | XP_016867759.1:p.Leu283= | |
| XM_017012271.2:c.846A>G | XP_016867760.1:p.Leu282= | |
| XM_017012272.1:c.846A>G | XP_016867761.1:p.Leu282= | |
| XM_017012274.2:c.255A>G | XP_016867763.1:p.Leu85= | |
| XM_017012275.2:c.198A>G | XP_016867764.1:p.Leu66= | |
| XM_017012276.2:c.255A>G | XP_016867765.1:p.Leu85= | |
| XM_017012277.2:c.234A>G | XP_016867766.1:p.Leu78= | |
| XM_017012278.1:c.198A>G | XP_016867767.1:p.Leu66= | |
| XM_017012279.2:c.198A>G | XP_016867768.1:p.Leu66= | |
| XM_017012280.2:c.198A>G | XP_016867769.1:p.Leu66= | |
| XM_017012281.2:c.198A>G | XP_016867770.1:p.Leu66= | |
| XM_024446786.1:c.849A>G | XP_024302554.1:p.Leu283= | |
| XM_024446787.1:c.258A>G | XP_024302555.1:p.Leu86= | |
| XM_024446788.1:c.255A>G | XP_024302556.1:p.Leu85= | |
| XM_024446789.1:c.258A>G | XP_024302557.1:p.Leu86= | |
| NM_016203.4:c.981A>G MANE Select | NP_057287.2:p.Leu327= | |
| NM_001040633.2:c.849A>G | NP_001035723.1:p.Leu283= | |
| NM_001304527.2:c.606A>G | NP_001291456.1:p.Leu202= | |
| NM_001304531.2:c.258A>G | NP_001291460.1:p.Leu86= | |
| NM_001363698.2:c.609A>G | NP_001350627.1:p.Leu203= | |
| NM_024429.2:c.258A>G | NP_077747.1:p.Leu86= |