Linked Data
ClinVar Variation Id:
45702
ClinVar RCV Id:
RCV000038923
RCV000250289
RCV000277741
RCV000331581
RCV000388465
RCV000675708
RCV000776063
RCV003125869
dbSNP Id:
rs28763998
ExAC:
7:151257665 A / G
gnomAD v2:
7-151257665-A-G
gnomAD v3:
7-151560579-A-G
gnomAD v4:
7-151560579-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151560579A>G , CM000669.2:g.151560579A>G | GRCh38 |
| NC_000007.13:g.151257665A>G , CM000669.1:g.151257665A>G | GRCh37 |
| NC_000007.12:g.150888598A>G | NCBI36 |
| NG_007486.1:g.321652T>C | |
| NG_007486.2:g.321653T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000478989.7:c.*359T>C | ENSP00000420645.3:n.*359T>C | |
| ENST00000652321.2:c.1620T>C | ENSP00000498886.2:p.Ile540= | |
| ENST00000287878.9:c.1623T>C MANE Select | ENSP00000287878.3:p.Ile541= | |
| ENST00000476632.2:c.900T>C | ENSP00000419493.2:p.Ile300= | |
| ENST00000492843.6:c.1248T>C | ENSP00000419577.2:p.Ile416= | |
| ENST00000650664.1:n.1338T>C | ||
| ENST00000650851.1:n.1117T>C | ||
| ENST00000650858.1:c.840T>C | ENSP00000498384.1:p.Ile280= | |
| ENST00000650948.1:n.4009T>C | ||
| ENST00000651188.1:c.*736T>C | ENSP00000498557.1:n.*736T>C | |
| ENST00000651303.1:c.*942T>C | ENSP00000498428.1:n.*942T>C | |
| ENST00000651378.1:c.900T>C | ENSP00000499103.1:p.Ile300= | |
| ENST00000651764.1:c.1491T>C | ENSP00000498796.1:p.Ile497= | |
| ENST00000651836.1:c.1813T>C | ENSP00000499156.1:n.1813T>C | |
| ENST00000651954.1:n.1839T>C | ||
| ENST00000652047.1:c.1488T>C | ENSP00000499111.1:p.Ile496= | |
| ENST00000652136.1:n.2170T>C | ||
| ENST00000652159.1:c.1491T>C | ENSP00000499025.1:p.Ile497= | |
| ENST00000652397.1:c.*359T>C | ENSP00000498351.1:n.*359T>C | |
| ENST00000287878.8:c.1623T>C | ENSP00000287878.3:p.Ile541= | |
| ENST00000392801.6:c.1491T>C | ENSP00000376549.2:p.Ile497= | |
| ENST00000418337.6:c.900T>C | ENSP00000387386.2:p.Ile300= | |
| ENST00000479461.1:n.275T>C | ||
| ENST00000485183.1:n.276T>C | ||
| ENST00000492843.5:c.1251T>C | ENSP00000419577.1:p.Ile417= | |
| NM_001040633.1:c.1491T>C | NP_001035723.1:p.Ile497= | |
| NM_001304527.1:c.1248T>C | NP_001291456.1:p.Ile416= | |
| NM_001304531.1:c.900T>C | NP_001291460.1:p.Ile300= | |
| NM_016203.3:c.1623T>C | NP_057287.2:p.Ile541= | |
| NM_024429.1:c.900T>C | NP_077747.1:p.Ile300= | |
| XM_005250002.2:c.1623T>C | XP_005250059.1:p.Ile541= | |
| XM_005250004.2:c.1491T>C | XP_005250061.1:p.Ile497= | |
| XM_005250006.3:c.1251T>C | XP_005250063.1:p.Ile417= | |
| XM_006716021.2:c.1611T>C | XP_006716084.1:p.Ile537= | |
| XM_011516282.1:c.1608T>C | XP_011514584.1:p.Ile536= | |
| XM_011516283.1:c.1611T>C | XP_011514585.1:p.Ile537= | |
| XM_011516284.1:c.1608T>C | XP_011514586.1:p.Ile536= | |
| XM_011516285.1:c.900T>C | XP_011514587.1:p.Ile300= | |
| XM_011516286.1:c.876T>C | XP_011514588.1:p.Ile292= | |
| XM_011516287.1:c.840T>C | XP_011514589.1:p.Ile280= | |
| NM_001363698.1:c.1251T>C | NP_001350627.1:p.Ile417= | |
| XM_005250002.4:c.1623T>C | XP_005250059.1:p.Ile541= | |
| XM_005250004.4:c.1491T>C | XP_005250061.1:p.Ile497= | |
| XM_005250006.5:c.1251T>C | XP_005250063.1:p.Ile417= | |
| XM_011516285.2:c.900T>C | XP_011514587.1:p.Ile300= | |
| XM_011516286.2:c.876T>C | XP_011514588.1:p.Ile292= | |
| XM_017012268.2:c.1488T>C | XP_016867757.1:p.Ile496= | |
| XM_017012269.1:c.1620T>C | XP_016867758.1:p.Ile540= | |
| XM_017012270.1:c.1491T>C | XP_016867759.1:p.Ile497= | |
| XM_017012271.2:c.1488T>C | XP_016867760.1:p.Ile496= | |
| XM_017012272.1:c.1488T>C | XP_016867761.1:p.Ile496= | |
| XM_017012274.2:c.897T>C | XP_016867763.1:p.Ile299= | |
| XM_017012275.2:c.840T>C | XP_016867764.1:p.Ile280= | |
| XM_017012276.2:c.897T>C | XP_016867765.1:p.Ile299= | |
| XM_017012277.2:c.876T>C | XP_016867766.1:p.Ile292= | |
| XM_017012278.1:c.840T>C | XP_016867767.1:p.Ile280= | |
| XM_017012279.2:c.840T>C | XP_016867768.1:p.Ile280= | |
| XM_017012280.2:c.840T>C | XP_016867769.1:p.Ile280= | |
| XM_017012281.2:c.840T>C | XP_016867770.1:p.Ile280= | |
| XM_024446786.1:c.1491T>C | XP_024302554.1:p.Ile497= | |
| XM_024446787.1:c.900T>C | XP_024302555.1:p.Ile300= | |
| XM_024446788.1:c.897T>C | XP_024302556.1:p.Ile299= | |
| XM_024446789.1:c.900T>C | XP_024302557.1:p.Ile300= | |
| NM_016203.4:c.1623T>C MANE Select | NP_057287.2:p.Ile541= | |
| NM_001040633.2:c.1491T>C | NP_001035723.1:p.Ile497= | |
| NM_001304527.2:c.1248T>C | NP_001291456.1:p.Ile416= | |
| NM_001304531.2:c.900T>C | NP_001291460.1:p.Ile300= | |
| NM_001363698.2:c.1251T>C | NP_001350627.1:p.Ile417= | |
| NM_024429.2:c.900T>C | NP_077747.1:p.Ile300= |