Linked Data
ClinVar Variation Id:
2888824
ClinVar RCV Id:
RCV003717434
dbSNP Id:
rs769410614
ExAC:
11:35308366 G / A
gnomAD v2:
11-35308366-G-A
gnomAD v3:
11-35286819-G-A
gnomAD v4:
11-35286819-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35286819G>A , CM000673.2:g.35286819G>A | GRCh38 |
| NC_000011.9:g.35308366G>A , CM000673.1:g.35308366G>A | GRCh37 |
| NC_000011.8:g.35264942G>A | NCBI36 |
| NG_008727.1:g.137740C>T | |
| NG_008727.2:g.137740C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.1224C>T MANE Select | ENSP00000278379.3:p.Ala408= | |
| ENST00000395750.6:c.1212C>T | ENSP00000379099.2:p.Ala404= | |
| ENST00000395753.6:c.1197C>T | ENSP00000379102.1:p.Ala399= | |
| ENST00000449068.2:c.1224C>T | ENSP00000406133.2:p.Ala408= | |
| ENST00000479543.2:n.776C>T | ||
| ENST00000531628.2:c.1224C>T | ENSP00000436029.2:p.Ala408= | |
| ENST00000606205.6:c.1224C>T | ENSP00000476124.2:p.Ala408= | |
| ENST00000642171.1:c.1224C>T | ENSP00000495538.1:p.Ala408= | |
| ENST00000642183.1:n.1252C>T | ||
| ENST00000642216.1:n.772C>T | ||
| ENST00000642224.1:n.1386C>T | ||
| ENST00000642448.1:n.1316C>T | ||
| ENST00000642578.1:c.1197C>T | ENSP00000494076.1:p.Ala399= | |
| ENST00000642769.1:c.490C>T | ||
| ENST00000643000.1:c.1197C>T | ENSP00000495164.1:p.Ala399= | |
| ENST00000643134.1:c.1224C>T | ENSP00000495188.1:p.Ala408= | |
| ENST00000643305.1:c.1224C>T | ENSP00000494828.1:p.Ala408= | |
| ENST00000643454.1:c.1215C>T | ENSP00000495126.1:p.Ala405= | |
| ENST00000643522.1:c.990C>T | ENSP00000496375.1:p.Ala330= | |
| ENST00000644050.1:c.1197C>T | ENSP00000496123.1:p.Ala399= | |
| ENST00000644299.1:c.1197C>T | ENSP00000494669.1:p.Ala399= | |
| ENST00000644351.1:c.1224C>T | ENSP00000496587.1:p.Ala408= | |
| ENST00000644459.1:c.1224C>T | ENSP00000495861.1:p.Ala408= | |
| ENST00000644779.1:c.1335C>T | ENSP00000494258.1:p.Ala445= | |
| ENST00000644868.1:c.1215C>T | ENSP00000496760.1:p.Ala405= | |
| ENST00000645194.1:c.1197C>T | ENSP00000496093.1:p.Ala399= | |
| ENST00000645303.1:c.1239C>T | ENSP00000496667.1:p.Ala413= | |
| ENST00000645634.1:c.1197C>T | ENSP00000493945.1:p.Ala399= | |
| ENST00000645892.1:n.1329C>T | ||
| ENST00000646080.1:c.1215C>T | ENSP00000494113.1:p.Ala405= | |
| ENST00000646099.1:c.1212C>T | ENSP00000495799.1:p.Ala404= | |
| ENST00000646167.1:c.840C>T | ENSP00000495246.1:p.Ala280= | |
| ENST00000646585.1:n.1379C>T | ||
| ENST00000647076.1:c.100C>T | ||
| ENST00000647104.1:c.1197C>T | ENSP00000494025.1:p.Ala399= | |
| ENST00000647193.1:n.350C>T | ||
| ENST00000647372.1:c.1197C>T | ENSP00000495277.1:p.Ala399= | |
| ENST00000278379.7:c.1224C>T | ENSP00000278379.3:p.Ala408= | |
| ENST00000395750.5:c.1197C>T | ENSP00000379099.1:p.Ala399= | |
| ENST00000395753.5:c.1197C>T | ENSP00000379102.1:p.Ala399= | |
| ENST00000531628.1:c.377C>T | ||
| ENST00000606205.5:c.1224C>T | ENSP00000476124.1:p.Ala408= | |
| NM_001195728.2:c.1197C>T | NP_001182657.1:p.Ala399= | |
| NM_001252652.1:c.1197C>T | NP_001239581.1:p.Ala399= | |
| NM_004171.3:c.1224C>T | NP_004162.2:p.Ala408= | |
| XM_005253067.1:c.1215C>T | XP_005253124.1:p.Ala405= | |
| XM_011520284.1:c.1272C>T | XP_011518586.1:p.Ala424= | |
| XM_011520285.1:c.1212C>T | XP_011518587.1:p.Ala404= | |
| XM_011520286.1:c.1272C>T | XP_011518588.1:p.Ala424= | |
| XM_011520287.1:c.1038C>T | XP_011518589.1:p.Ala346= | |
| XM_011520285.2:c.1212C>T | XP_011518587.1:p.Ala404= | |
| XM_017018136.1:c.1239C>T | XP_016873625.1:p.Ala413= | |
| XM_017018137.1:c.1197C>T | XP_016873626.1:p.Ala399= | |
| XM_017018138.1:c.1197C>T | XP_016873627.1:p.Ala399= | |
| XM_017018139.1:c.990C>T | XP_016873628.1:p.Ala330= | |
| NM_004171.4:c.1224C>T MANE Select | NP_004162.2:p.Ala408= | |
| NM_001195728.3:c.1197C>T | NP_001182657.1:p.Ala399= | |
| NM_001252652.2:c.1197C>T | NP_001239581.1:p.Ala399= |