Linked Data
ClinVar Variation Id:
374476
ClinVar RCV Id:
RCV000415967
dbSNP Id:
rs1057519117
gnomAD v4:
22-50459667-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50459667C>A , CM000684.2:g.50459667C>A | GRCh38 |
| NC_000022.10:g.50898096C>A , CM000684.1:g.50898096C>A | GRCh37 |
| NC_000022.9:g.49244962C>A | NCBI36 |
| NG_041810.1:g.20405G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000348911.11:c.3492-1G>T | ENSP00000252027.8:n.3492-1G>T | |
| ENST00000470434.2:n.89-275G>T | ||
| ENST00000684986.1:c.3495-1G>T | ENSP00000509117.1:n.3495-1G>T | |
| ENST00000685180.1:n.2488+867G>T | ||
| ENST00000685386.1:c.1335-1G>T | ENSP00000510338.1:n.1335-1G>T | |
| ENST00000685390.1:n.1735-275G>T | ||
| ENST00000685809.1:c.3483-1G>T | ENSP00000508863.1:n.3483-1G>T | |
| ENST00000686191.1:n.189-1G>T | ||
| ENST00000686222.1:c.*2914-1G>T | ENSP00000508737.1:n.*2914-1G>T | |
| ENST00000686427.1:c.*505-1G>T | ENSP00000510379.1:n.*505-1G>T | |
| ENST00000686801.1:c.3480-1G>T | ENSP00000509915.1:n.3480-1G>T | |
| ENST00000687016.1:c.3471-1G>T | ENSP00000509074.1:n.3471-1G>T | |
| ENST00000687704.1:c.*1306-1G>T | ENSP00000510454.1:n.*1306-1G>T | |
| ENST00000687861.1:n.50-1G>T | ||
| ENST00000688066.1:c.3492-1G>T | ENSP00000510782.1:n.3492-1G>T | |
| ENST00000688124.1:c.*2486-1G>T | ENSP00000510645.1:n.*2486-1G>T | |
| ENST00000688848.1:c.*2914-1G>T | ENSP00000509419.1:n.*2914-1G>T | |
| ENST00000688985.1:c.498-1G>T | ENSP00000510477.1:n.498-1G>T | |
| ENST00000689129.1:c.3495-1G>T | ENSP00000510414.1:n.3495-1G>T | |
| ENST00000689177.1:n.1627G>T | ||
| ENST00000689981.1:c.3492-1G>T | ENSP00000509035.1:n.3492-1G>T | |
| ENST00000690369.1:n.3510-1G>T | ||
| ENST00000690590.1:n.538G>T | ||
| ENST00000690990.1:c.3486-1G>T | ENSP00000510461.1:n.3486-1G>T | |
| ENST00000691233.1:c.3489-1G>T | ENSP00000509215.1:n.3489-1G>T | |
| ENST00000691345.1:n.1785-257G>T | ||
| ENST00000691792.1:c.3492-1G>T | ENSP00000509911.1:n.3492-1G>T | |
| ENST00000691959.1:n.3655G>T | ||
| ENST00000692006.1:c.480-1G>T | ENSP00000509653.1:n.480-1G>T | |
| ENST00000692844.1:n.653G>T | ||
| ENST00000693052.1:c.3492-1G>T | ENSP00000509558.1:n.3492-1G>T | |
| ENST00000693289.1:n.290G>T | ||
| ENST00000693440.1:c.3489-1G>T | ENSP00000509462.1:n.3489-1G>T | |
| ENST00000693499.1:n.3979G>T | ||
| ENST00000380817.8:c.3492-1G>T MANE Select | ENSP00000370196.2:n.3492-1G>T | |
| ENST00000348911.10:c.3495-1G>T | ENSP00000252027.7:n.3495-1G>T | |
| ENST00000380817.7:c.3492-1G>T | ENSP00000370196.2:n.3492-1G>T | |
| NM_002972.3:c.3492-1G>T | NP_002963.2:n.3492-1G>T | |
| XM_005261931.1:c.3495-1G>T | XP_005261988.1:n.3495-1G>T | |
| XM_005261935.1:c.3492-1G>T | XP_005261992.1:n.3492-1G>T | |
| XM_011530707.1:c.3594-1G>T | XP_011529009.1:n.3594-1G>T | |
| XM_011530708.1:c.3546-1G>T | XP_011529010.1:n.3546-1G>T | |
| XM_011530709.1:c.3522-1G>T | XP_011529011.1:n.3522-1G>T | |
| XM_011530710.1:c.3519-1G>T | XP_011529012.1:n.3519-1G>T | |
| XM_011530711.1:c.3597-1G>T | XP_011529013.1:n.3597-1G>T | |
| XR_938344.1:n.3612-1G>T | ||
| NM_001365819.1:c.3495-1G>T | NP_001352748.1:n.3495-1G>T | |
| XM_005261935.2:c.3492-1G>T | XP_005261992.1:n.3492-1G>T | |
| XM_011530709.2:c.3522-1G>T | XP_011529011.1:n.3522-1G>T | |
| XM_011530710.2:c.3519-1G>T | XP_011529012.1:n.3519-1G>T | |
| XM_017028905.2:c.3522-1G>T | XP_016884394.1:n.3522-1G>T | |
| NM_002972.4:c.3492-1G>T MANE Select | NP_002963.2:n.3492-1G>T |