Linked Data
ClinVar Variation Id:
374672
dbSNP Id:
rs377428323
ExAC:
22:50904507 C / T
gnomAD v2:
22-50904507-C-T
gnomAD v3:
22-50466078-C-T
gnomAD v4:
22-50466078-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50466078C>T , CM000684.2:g.50466078C>T | GRCh38 |
| NC_000022.10:g.50904507C>T , CM000684.1:g.50904507C>T | GRCh37 |
| NC_000022.9:g.49251373C>T | NCBI36 |
| NG_041810.1:g.13994G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000348911.11:c.898-4G>A | ENSP00000252027.8:n.898-4G>A | |
| ENST00000684986.1:c.901-4G>A | ENSP00000509117.1:n.901-4G>A | |
| ENST00000685180.1:n.487+1260G>A | ||
| ENST00000685809.1:c.892-4G>A | ENSP00000508863.1:n.892-4G>A | |
| ENST00000686222.1:c.*323-4G>A | ENSP00000508737.1:n.*323-4G>A | |
| ENST00000686421.1:c.349-4G>A | ||
| ENST00000686427.1:c.898-4G>A | ENSP00000510379.1:n.898-4G>A | |
| ENST00000686717.1:c.242+72G>A | ||
| ENST00000686801.1:c.889-4G>A | ENSP00000509915.1:n.889-4G>A | |
| ENST00000687016.1:c.892-4G>A | ENSP00000509074.1:n.892-4G>A | |
| ENST00000687704.1:c.898-4G>A | ENSP00000510454.1:n.898-4G>A | |
| ENST00000687878.1:c.486-4G>A | ||
| ENST00000688066.1:c.889-4G>A | ENSP00000510782.1:n.889-4G>A | |
| ENST00000688124.1:c.898-35G>A | ENSP00000510645.1:n.898-35G>A | |
| ENST00000688848.1:c.*323-4G>A | ENSP00000509419.1:n.*323-4G>A | |
| ENST00000689095.1:c.134-4G>A | ||
| ENST00000689129.1:c.901-4G>A | ENSP00000510414.1:n.901-4G>A | |
| ENST00000689981.1:c.898-4G>A | ENSP00000509035.1:n.898-4G>A | |
| ENST00000690369.1:n.915G>A | ||
| ENST00000690990.1:c.892-4G>A | ENSP00000510461.1:n.892-4G>A | |
| ENST00000691233.1:c.898-4G>A | ENSP00000509215.1:n.898-4G>A | |
| ENST00000691792.1:c.898-4G>A | ENSP00000509911.1:n.898-4G>A | |
| ENST00000691959.1:n.540-4G>A | ||
| ENST00000692076.1:c.643-4G>A | ENSP00000510301.1:n.643-4G>A | |
| ENST00000693052.1:c.898-4G>A | ENSP00000509558.1:n.898-4G>A | |
| ENST00000693440.1:c.898-4G>A | ENSP00000509462.1:n.898-4G>A | |
| ENST00000693675.1:n.278-4G>A | ||
| ENST00000380817.8:c.898-4G>A MANE Select | ENSP00000370196.2:n.898-4G>A | |
| ENST00000348911.10:c.901-4G>A | ENSP00000252027.7:n.901-4G>A | |
| ENST00000380817.7:c.898-4G>A | ENSP00000370196.2:n.898-4G>A | |
| NM_002972.3:c.898-4G>A | NP_002963.2:n.898-4G>A | |
| XM_005261931.1:c.901-4G>A | XP_005261988.1:n.901-4G>A | |
| XM_005261935.1:c.898-4G>A | XP_005261992.1:n.898-4G>A | |
| XM_011530707.1:c.1000-4G>A | XP_011529009.1:n.1000-4G>A | |
| XM_011530708.1:c.952-4G>A | XP_011529010.1:n.952-4G>A | |
| XM_011530709.1:c.928-4G>A | XP_011529011.1:n.928-4G>A | |
| XM_011530710.1:c.925-4G>A | XP_011529012.1:n.925-4G>A | |
| XM_011530711.1:c.1003-4G>A | XP_011529013.1:n.1003-4G>A | |
| XR_938344.1:n.1018-4G>A | ||
| NM_001365819.1:c.901-4G>A | NP_001352748.1:n.901-4G>A | |
| XM_005261935.2:c.898-4G>A | XP_005261992.1:n.898-4G>A | |
| XM_011530709.2:c.928-4G>A | XP_011529011.1:n.928-4G>A | |
| XM_011530710.2:c.925-4G>A | XP_011529012.1:n.925-4G>A | |
| XM_017028905.2:c.928-4G>A | XP_016884394.1:n.928-4G>A | |
| NM_002972.4:c.898-4G>A MANE Select | NP_002963.2:n.898-4G>A |