Linked Data
ClinVar Variation Id:
1165045
dbSNP Id:
rs1042113
ExAC:
11:35308369 T / C
gnomAD v2:
11-35308369-T-C
gnomAD v3:
11-35286822-T-C
gnomAD v4:
11-35286822-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35286822T>C , CM000673.2:g.35286822T>C | GRCh38 |
| NC_000011.9:g.35308369T>C , CM000673.1:g.35308369T>C | GRCh37 |
| NC_000011.8:g.35264945T>C | NCBI36 |
| NG_008727.1:g.137737A>G | |
| NG_008727.2:g.137737A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000278379.9:c.1221A>G MANE Select | ENSP00000278379.3:p.Val407= | |
| ENST00000395750.6:c.1209A>G | ENSP00000379099.2:p.Val403= | |
| ENST00000395753.6:c.1194A>G | ENSP00000379102.1:p.Val398= | |
| ENST00000449068.2:c.1221A>G | ENSP00000406133.2:p.Val407= | |
| ENST00000479543.2:n.773A>G | ||
| ENST00000531628.2:c.1221A>G | ENSP00000436029.2:p.Val407= | |
| ENST00000606205.6:c.1221A>G | ENSP00000476124.2:p.Val407= | |
| ENST00000642171.1:c.1221A>G | ENSP00000495538.1:p.Val407= | |
| ENST00000642183.1:n.1249A>G | ||
| ENST00000642216.1:n.769A>G | ||
| ENST00000642224.1:n.1383A>G | ||
| ENST00000642448.1:n.1313A>G | ||
| ENST00000642578.1:c.1194A>G | ENSP00000494076.1:p.Val398= | |
| ENST00000642769.1:c.487A>G | ||
| ENST00000643000.1:c.1194A>G | ENSP00000495164.1:p.Val398= | |
| ENST00000643134.1:c.1221A>G | ENSP00000495188.1:p.Val407= | |
| ENST00000643305.1:c.1221A>G | ENSP00000494828.1:p.Val407= | |
| ENST00000643454.1:c.1212A>G | ENSP00000495126.1:p.Val404= | |
| ENST00000643522.1:c.987A>G | ENSP00000496375.1:p.Val329= | |
| ENST00000644050.1:c.1194A>G | ENSP00000496123.1:p.Val398= | |
| ENST00000644299.1:c.1194A>G | ENSP00000494669.1:p.Val398= | |
| ENST00000644351.1:c.1221A>G | ENSP00000496587.1:p.Val407= | |
| ENST00000644459.1:c.1221A>G | ENSP00000495861.1:p.Val407= | |
| ENST00000644779.1:c.1332A>G | ENSP00000494258.1:p.Val444= | |
| ENST00000644868.1:c.1212A>G | ENSP00000496760.1:p.Val404= | |
| ENST00000645194.1:c.1194A>G | ENSP00000496093.1:p.Val398= | |
| ENST00000645303.1:c.1236A>G | ENSP00000496667.1:p.Val412= | |
| ENST00000645634.1:c.1194A>G | ENSP00000493945.1:p.Val398= | |
| ENST00000645892.1:n.1326A>G | ||
| ENST00000646080.1:c.1212A>G | ENSP00000494113.1:p.Val404= | |
| ENST00000646099.1:c.1209A>G | ENSP00000495799.1:p.Val403= | |
| ENST00000646167.1:c.837A>G | ENSP00000495246.1:p.Val279= | |
| ENST00000646585.1:n.1376A>G | ||
| ENST00000647076.1:c.97A>G | ||
| ENST00000647104.1:c.1194A>G | ENSP00000494025.1:p.Val398= | |
| ENST00000647193.1:n.347A>G | ||
| ENST00000647372.1:c.1194A>G | ENSP00000495277.1:p.Val398= | |
| ENST00000278379.7:c.1221A>G | ENSP00000278379.3:p.Val407= | |
| ENST00000395750.5:c.1194A>G | ENSP00000379099.1:p.Val398= | |
| ENST00000395753.5:c.1194A>G | ENSP00000379102.1:p.Val398= | |
| ENST00000531628.1:c.374A>G | ||
| ENST00000606205.5:c.1221A>G | ENSP00000476124.1:p.Val407= | |
| NM_001195728.2:c.1194A>G | NP_001182657.1:p.Val398= | |
| NM_001252652.1:c.1194A>G | NP_001239581.1:p.Val398= | |
| NM_004171.3:c.1221A>G | NP_004162.2:p.Val407= | |
| XM_005253067.1:c.1212A>G | XP_005253124.1:p.Val404= | |
| XM_011520284.1:c.1269A>G | XP_011518586.1:p.Val423= | |
| XM_011520285.1:c.1209A>G | XP_011518587.1:p.Val403= | |
| XM_011520286.1:c.1269A>G | XP_011518588.1:p.Val423= | |
| XM_011520287.1:c.1035A>G | XP_011518589.1:p.Val345= | |
| XM_011520285.2:c.1209A>G | XP_011518587.1:p.Val403= | |
| XM_017018136.1:c.1236A>G | XP_016873625.1:p.Val412= | |
| XM_017018137.1:c.1194A>G | XP_016873626.1:p.Val398= | |
| XM_017018138.1:c.1194A>G | XP_016873627.1:p.Val398= | |
| XM_017018139.1:c.987A>G | XP_016873628.1:p.Val329= | |
| NM_004171.4:c.1221A>G MANE Select | NP_004162.2:p.Val407= | |
| NM_001195728.3:c.1194A>G | NP_001182657.1:p.Val398= | |
| NM_001252652.2:c.1194A>G | NP_001239581.1:p.Val398= |