Linked Data
dbSNP Id:
rs1486019762
gnomAD v2:
22-50893180-G-A
gnomAD v3:
22-50454751-G-A
gnomAD v4:
22-50454751-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50454751G>A , CM000684.2:g.50454751G>A | GRCh38 |
| NC_000022.10:g.50893180G>A , CM000684.1:g.50893180G>A | GRCh37 |
| NC_000022.9:g.49240046G>A | NCBI36 |
| NG_041810.1:g.25321C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4735-9C>T | ENSP00000252027.8:n.4735-9C>T | |
| ENST00000418590.4:c.445-45C>T | ENSP00000401538.2:n.445-45C>T | |
| ENST00000470434.2:n.1216-9C>T | ||
| ENST00000684986.1:c.4816-9C>T | ENSP00000509117.1:n.4816-9C>T | |
| ENST00000685180.1:n.2488+5783C>T | ||
| ENST00000685390.1:n.2781-26C>T | ||
| ENST00000685411.1:n.563-9C>T | ||
| ENST00000685592.1:c.1047-9C>T | ||
| ENST00000685809.1:c.4726-9C>T | ENSP00000508863.1:n.4726-9C>T | |
| ENST00000686191.1:n.4013-9C>T | ||
| ENST00000686222.1:c.*4235-9C>T | ENSP00000508737.1:n.*4235-9C>T | |
| ENST00000686321.1:c.909-9C>T | ||
| ENST00000686427.1:c.*1748-9C>T | ENSP00000510379.1:n.*1748-9C>T | |
| ENST00000686758.1:n.2627-9C>T | ||
| ENST00000686801.1:c.4801-9C>T | ENSP00000509915.1:n.4801-9C>T | |
| ENST00000686826.1:n.1132-9C>T | ||
| ENST00000687016.1:c.4714-9C>T | ENSP00000509074.1:n.4714-9C>T | |
| ENST00000687704.1:c.*2600C>T | ENSP00000510454.1:n.*2600C>T | |
| ENST00000688066.1:c.4813-9C>T | ENSP00000510782.1:n.4813-9C>T | |
| ENST00000688124.1:c.*3731-26C>T | ENSP00000510645.1:n.*3731-26C>T | |
| ENST00000688848.1:c.*4157-9C>T | ENSP00000509419.1:n.*4157-9C>T | |
| ENST00000688985.1:c.1814-9C>T | ENSP00000510477.1:n.1814-9C>T | |
| ENST00000689129.1:c.4738-9C>T | ENSP00000510414.1:n.4738-9C>T | |
| ENST00000689177.1:n.6085-9C>T | ||
| ENST00000689849.1:c.909-9C>T | ||
| ENST00000689981.1:c.4813-9C>T | ENSP00000509035.1:n.4813-9C>T | |
| ENST00000690369.1:n.4831-9C>T | ||
| ENST00000690590.1:n.1860-9C>T | ||
| ENST00000690990.1:c.4807-9C>T | ENSP00000510461.1:n.4807-9C>T | |
| ENST00000691233.1:c.4732-9C>T | ENSP00000509215.1:n.4732-9C>T | |
| ENST00000691306.1:c.894-9C>T | ||
| ENST00000691345.1:n.2302+1465C>T | ||
| ENST00000691792.1:c.4801-9C>T | ENSP00000509911.1:n.4801-9C>T | |
| ENST00000691959.1:n.5532-9C>T | ||
| ENST00000692844.1:n.1897-9C>T | ||
| ENST00000692946.1:c.909-9C>T | ||
| ENST00000693052.1:c.4831-9C>T | ENSP00000509558.1:n.4831-9C>T | |
| ENST00000693289.1:n.1972-9C>T | ||
| ENST00000693440.1:c.4810-9C>T | ENSP00000509462.1:n.4810-9C>T | |
| ENST00000693499.1:n.5809-9C>T | ||
| ENST00000693591.1:n.3621-9C>T | ||
| ENST00000380817.8:c.4813-9C>T MANE Select | ENSP00000370196.2:n.4813-9C>T | |
| ENST00000348911.10:c.4738-9C>T | ENSP00000252027.7:n.4738-9C>T | |
| ENST00000380817.7:c.4813-9C>T | ENSP00000370196.2:n.4813-9C>T | |
| ENST00000418590.3:c.413-45C>T | ||
| ENST00000470434.1:n.954-9C>T | ||
| NM_002972.3:c.4813-9C>T | NP_002963.2:n.4813-9C>T | |
| XM_005261931.1:c.4816-9C>T | XP_005261988.1:n.4816-9C>T | |
| XM_005261935.1:c.4735-9C>T | XP_005261992.1:n.4735-9C>T | |
| XM_011530707.1:c.4915-9C>T | XP_011529009.1:n.4915-9C>T | |
| XM_011530708.1:c.4867-9C>T | XP_011529010.1:n.4867-9C>T | |
| XM_011530709.1:c.4843-9C>T | XP_011529011.1:n.4843-9C>T | |
| XM_011530710.1:c.4840-9C>T | XP_011529012.1:n.4840-9C>T | |
| XM_011530711.1:c.4840-9C>T | XP_011529013.1:n.4840-9C>T | |
| XR_938344.1:n.4933-9C>T | ||
| NM_001365819.1:c.4738-9C>T | NP_001352748.1:n.4738-9C>T | |
| XM_005261935.2:c.4735-9C>T | XP_005261992.1:n.4735-9C>T | |
| XM_011530709.2:c.4843-9C>T | XP_011529011.1:n.4843-9C>T | |
| XM_011530710.2:c.4840-9C>T | XP_011529012.1:n.4840-9C>T | |
| XM_017028905.2:c.4765-9C>T | XP_016884394.1:n.4765-9C>T | |
| NM_002972.4:c.4813-9C>T MANE Select | NP_002963.2:n.4813-9C>T |