Linked Data
dbSNP Id:
rs376886593
ExAC:
22:50893398 G / A
gnomAD v2:
22-50893398-G-A
gnomAD v3:
22-50454969-G-A
gnomAD v4:
22-50454969-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50454969G>A , CM000684.2:g.50454969G>A | GRCh38 |
| NC_000022.10:g.50893398G>A , CM000684.1:g.50893398G>A | GRCh37 |
| NC_000022.9:g.49240264G>A | NCBI36 |
| NG_041810.1:g.25103C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.4604-25C>T | ENSP00000252027.8:n.4604-25C>T | |
| ENST00000418590.4:c.314-25C>T | ENSP00000401538.2:n.314-25C>T | |
| ENST00000470434.2:n.1085-25C>T | ||
| ENST00000684986.1:c.4685-25C>T | ENSP00000509117.1:n.4685-25C>T | |
| ENST00000685180.1:n.2488+5565C>T | ||
| ENST00000685390.1:n.2650-25C>T | ||
| ENST00000685411.1:n.432-25C>T | ||
| ENST00000685592.1:c.916-25C>T | ||
| ENST00000685809.1:c.4595-25C>T | ENSP00000508863.1:n.4595-25C>T | |
| ENST00000686029.1:c.760-25C>T | ||
| ENST00000686191.1:n.3882-25C>T | ||
| ENST00000686222.1:c.*4104-25C>T | ENSP00000508737.1:n.*4104-25C>T | |
| ENST00000686321.1:c.778-25C>T | ||
| ENST00000686427.1:c.*1617-25C>T | ENSP00000510379.1:n.*1617-25C>T | |
| ENST00000686758.1:n.2471C>T | ||
| ENST00000686801.1:c.4670-25C>T | ENSP00000509915.1:n.4670-25C>T | |
| ENST00000686826.1:n.1001-25C>T | ||
| ENST00000687016.1:c.4583-25C>T | ENSP00000509074.1:n.4583-25C>T | |
| ENST00000687704.1:c.*2407-25C>T | ENSP00000510454.1:n.*2407-25C>T | |
| ENST00000688066.1:c.4682-25C>T | ENSP00000510782.1:n.4682-25C>T | |
| ENST00000688124.1:c.*3600-25C>T | ENSP00000510645.1:n.*3600-25C>T | |
| ENST00000688848.1:c.*4026-25C>T | ENSP00000509419.1:n.*4026-25C>T | |
| ENST00000688985.1:c.1683-25C>T | ENSP00000510477.1:n.1683-25C>T | |
| ENST00000689129.1:c.4607-25C>T | ENSP00000510414.1:n.4607-25C>T | |
| ENST00000689177.1:n.5954-25C>T | ||
| ENST00000689849.1:c.778-25C>T | ||
| ENST00000689981.1:c.4682-25C>T | ENSP00000509035.1:n.4682-25C>T | |
| ENST00000690369.1:n.4700-25C>T | ||
| ENST00000690590.1:n.1729-25C>T | ||
| ENST00000690990.1:c.4676-25C>T | ENSP00000510461.1:n.4676-25C>T | |
| ENST00000691233.1:c.4601-25C>T | ENSP00000509215.1:n.4601-25C>T | |
| ENST00000691306.1:c.780-42C>T | ||
| ENST00000691345.1:n.2302+1247C>T | ||
| ENST00000691792.1:c.4670-25C>T | ENSP00000509911.1:n.4670-25C>T | |
| ENST00000691959.1:n.5401-25C>T | ||
| ENST00000692844.1:n.1766-25C>T | ||
| ENST00000692946.1:c.778-25C>T | ||
| ENST00000693052.1:c.4700-25C>T | ENSP00000509558.1:n.4700-25C>T | |
| ENST00000693289.1:n.1841-25C>T | ||
| ENST00000693440.1:c.4679-25C>T | ENSP00000509462.1:n.4679-25C>T | |
| ENST00000693499.1:n.5653C>T | ||
| ENST00000693591.1:n.3465C>T | ||
| ENST00000380817.8:c.4682-25C>T MANE Select | ENSP00000370196.2:n.4682-25C>T | |
| ENST00000348911.10:c.4607-25C>T | ENSP00000252027.7:n.4607-25C>T | |
| ENST00000380817.7:c.4682-25C>T | ENSP00000370196.2:n.4682-25C>T | |
| ENST00000418590.3:c.282-25C>T | ||
| ENST00000470434.1:n.823-25C>T | ||
| NM_002972.3:c.4682-25C>T | NP_002963.2:n.4682-25C>T | |
| XM_005261931.1:c.4685-25C>T | XP_005261988.1:n.4685-25C>T | |
| XM_005261935.1:c.4604-25C>T | XP_005261992.1:n.4604-25C>T | |
| XM_011530707.1:c.4784-25C>T | XP_011529009.1:n.4784-25C>T | |
| XM_011530708.1:c.4736-25C>T | XP_011529010.1:n.4736-25C>T | |
| XM_011530709.1:c.4712-25C>T | XP_011529011.1:n.4712-25C>T | |
| XM_011530710.1:c.4709-25C>T | XP_011529012.1:n.4709-25C>T | |
| XM_011530711.1:c.4709-25C>T | XP_011529013.1:n.4709-25C>T | |
| XR_938344.1:n.4802-25C>T | ||
| NM_001365819.1:c.4607-25C>T | NP_001352748.1:n.4607-25C>T | |
| XM_005261935.2:c.4604-25C>T | XP_005261992.1:n.4604-25C>T | |
| XM_011530709.2:c.4712-25C>T | XP_011529011.1:n.4712-25C>T | |
| XM_011530710.2:c.4709-25C>T | XP_011529012.1:n.4709-25C>T | |
| XM_017028905.2:c.4634-25C>T | XP_016884394.1:n.4634-25C>T | |
| NM_002972.4:c.4682-25C>T MANE Select | NP_002963.2:n.4682-25C>T |