Linked Data
dbSNP Id:
rs1554988833
ExAC:
11:35282564 A / G
gnomAD v2:
11-35282564-A-G
gnomAD v4:
11-35261017-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.35261017A>G , CM000673.2:g.35261017A>G | GRCh38 |
| NC_000011.9:g.35282564A>G , CM000673.1:g.35282564A>G | GRCh37 |
| NC_000011.8:g.35239140A>G | NCBI36 |
| NG_008727.1:g.163542T>C | |
| NG_008727.2:g.163542T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000278379.9:c.1654-52T>C MANE Select | ENSP00000278379.3:n.1654-52T>C | |
| ENST00000395750.6:c.1642-52T>C | ENSP00000379099.2:n.1642-52T>C | |
| ENST00000395753.6:c.1627-52T>C | ENSP00000379102.1:n.1627-52T>C | |
| ENST00000479543.2:n.1206-52T>C | ||
| ENST00000642171.1:c.*36-52T>C | ENSP00000495538.1:n.*36-52T>C | |
| ENST00000642448.1:n.1746-52T>C | ||
| ENST00000642769.1:c.920-52T>C | ||
| ENST00000643000.1:c.1627-52T>C | ENSP00000495164.1:n.1627-52T>C | |
| ENST00000643134.1:c.1654-65T>C | ENSP00000495188.1:n.1654-65T>C | |
| ENST00000643522.1:c.1420-52T>C | ENSP00000496375.1:n.1420-52T>C | |
| ENST00000644050.1:c.1627-52T>C | ENSP00000496123.1:n.1627-52T>C | |
| ENST00000644299.1:c.1627-52T>C | ENSP00000494669.1:n.1627-52T>C | |
| ENST00000644459.1:c.*146-52T>C | ENSP00000495861.1:n.*146-52T>C | |
| ENST00000644779.1:c.1765-52T>C | ENSP00000494258.1:n.1765-52T>C | |
| ENST00000644868.1:c.1716-52T>C | ENSP00000496760.1:n.1716-52T>C | |
| ENST00000645194.1:c.1627-52T>C | ENSP00000496093.1:n.1627-52T>C | |
| ENST00000645303.1:c.1669-52T>C | ENSP00000496667.1:n.1669-52T>C | |
| ENST00000645542.1:n.360-52T>C | ||
| ENST00000645634.1:c.1627-52T>C | ENSP00000493945.1:n.1627-52T>C | |
| ENST00000646080.1:c.1645-52T>C | ENSP00000494113.1:n.1645-52T>C | |
| ENST00000647076.1:c.395-52T>C | ||
| ENST00000647104.1:c.1627-52T>C | ENSP00000494025.1:n.1627-52T>C | |
| ENST00000278379.7:c.1654-52T>C | ENSP00000278379.3:n.1654-52T>C | |
| ENST00000395750.5:c.1627-52T>C | ENSP00000379099.1:n.1627-52T>C | |
| ENST00000395753.5:c.1627-52T>C | ENSP00000379102.1:n.1627-52T>C | |
| ENST00000464522.2:c.219+4510T>C | ENSP00000435406.1:n.219+4510T>C | |
| ENST00000479543.1:n.470-52T>C | ||
| NM_001195728.2:c.1627-52T>C | NP_001182657.1:n.1627-52T>C | |
| NM_001252652.1:c.1627-52T>C | NP_001239581.1:n.1627-52T>C | |
| NM_004171.3:c.1654-52T>C | NP_004162.2:n.1654-52T>C | |
| XM_005253067.1:c.1645-52T>C | XP_005253124.1:n.1645-52T>C | |
| XM_011520284.1:c.1702-52T>C | XP_011518586.1:n.1702-52T>C | |
| XM_011520285.1:c.1642-52T>C | XP_011518587.1:n.1642-52T>C | |
| XM_011520286.1:c.1567-52T>C | XP_011518588.1:n.1567-52T>C | |
| XM_011520287.1:c.1468-52T>C | XP_011518589.1:n.1468-52T>C | |
| XM_011520285.2:c.1642-52T>C | XP_011518587.1:n.1642-52T>C | |
| XM_017018136.1:c.1669-52T>C | XP_016873625.1:n.1669-52T>C | |
| XM_017018137.1:c.1627-52T>C | XP_016873626.1:n.1627-52T>C | |
| XM_017018138.1:c.1627-52T>C | XP_016873627.1:n.1627-52T>C | |
| XM_017018139.1:c.1420-52T>C | XP_016873628.1:n.1420-52T>C | |
| NM_004171.4:c.1654-52T>C MANE Select | NP_004162.2:n.1654-52T>C | |
| NM_001195728.3:c.1627-52T>C | NP_001182657.1:n.1627-52T>C | |
| NM_001252652.2:c.1627-52T>C | NP_001239581.1:n.1627-52T>C |