Linked Data
ClinVar Variation Id:
299190
dbSNP Id:
rs17425877
ExAC:
10:127486620 A / T
gnomAD v2:
10-127486620-A-T
gnomAD v3:
10-125798051-A-T
gnomAD v4:
10-125798051-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.125798051A>T , CM000672.2:g.125798051A>T | GRCh38 |
| NC_000010.10:g.127486620A>T , CM000672.1:g.127486620A>T | GRCh37 |
| NC_000010.9:g.127476610A>T | NCBI36 |
| NG_011557.1:g.30218T>A | |
| NG_011557.2:g.30218T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713579.1:c.475+14T>A | ENSP00000518871.1:n.475+14T>A | |
| ENST00000368797.10:c.475+14T>A MANE Select | ENSP00000357787.4:n.475+14T>A | |
| ENST00000465577.6:c.152+14T>A | ||
| ENST00000648119.1:c.475+14T>A | ENSP00000497494.1:n.475+14T>A | |
| ENST00000648427.1:c.*130+14T>A | ENSP00000497909.1:n.*130+14T>A | |
| ENST00000649275.1:c.404+14T>A | ||
| ENST00000649450.1:n.512+14T>A | ||
| ENST00000649536.1:c.395-1863T>A | ENSP00000497817.1:n.395-1863T>A | |
| ENST00000650185.1:c.258+14T>A | ||
| ENST00000650472.1:n.2631+14T>A | ||
| ENST00000650524.1:c.316+14T>A | ENSP00000498108.1:n.316+14T>A | |
| ENST00000650587.1:c.475+14T>A | ENSP00000497366.1:n.475+14T>A | |
| ENST00000368786.5:c.475+14T>A | ENSP00000357775.1:n.475+14T>A | |
| ENST00000368797.8:c.475+14T>A | ENSP00000357787.4:n.475+14T>A | |
| ENST00000420761.5:c.391+14T>A | ENSP00000414833.1:n.391+14T>A | |
| ENST00000462490.5:c.134+14T>A | ||
| ENST00000464267.1:n.39+14T>A | ||
| ENST00000465577.5:n.36+14T>A | ||
| ENST00000622016.4:c.55+14T>A | ENSP00000483041.1:n.55+14T>A | |
| NM_000375.2:c.475+14T>A | NP_000366.1:n.475+14T>A | |
| XM_005270137.2:c.475+14T>A | XP_005270194.1:n.475+14T>A | |
| XM_005270138.2:c.395-1863T>A | XP_005270195.1:n.395-1863T>A | |
| XM_005270139.2:c.475+14T>A | XP_005270196.1:n.475+14T>A | |
| XM_005270140.3:c.475+14T>A | XP_005270197.1:n.475+14T>A | |
| XM_006717960.2:c.475+14T>A | XP_006718023.1:n.475+14T>A | |
| XM_011540126.1:c.475+14T>A | XP_011538428.1:n.475+14T>A | |
| XM_011540127.1:c.475+14T>A | XP_011538429.1:n.475+14T>A | |
| XR_246103.2:n.583+14T>A | ||
| XR_945809.1:n.583+14T>A | ||
| XR_945810.1:n.583+14T>A | ||
| NM_000375.3:c.475+14T>A MANE Select | NP_000366.1:n.475+14T>A | |
| NM_001324036.1:c.475+14T>A | NP_001310965.1:n.475+14T>A | |
| NM_001324037.1:c.395-1863T>A | NP_001310966.1:n.395-1863T>A | |
| NM_001324038.1:c.395-1863T>A | NP_001310967.1:n.395-1863T>A | |
| NR_136675.1:n.560+14T>A | ||
| NR_136676.1:n.741+14T>A | ||
| NR_136677.1:n.741+14T>A | ||
| NR_136678.1:n.471+14T>A | ||
| XM_005270140.5:c.475+14T>A | XP_005270197.1:n.475+14T>A | |
| XM_011540127.2:c.475+14T>A | XP_011538429.1:n.475+14T>A | |
| XM_017016611.2:c.475+14T>A | XP_016872100.2:n.475+14T>A | |
| XM_017016612.2:c.475+14T>A | XP_016872101.1:n.475+14T>A | |
| XM_024448154.1:c.475+14T>A | XP_024303922.1:n.475+14T>A | |
| XM_024448155.1:c.395-1863T>A | XP_024303923.1:n.395-1863T>A | |
| XR_001747196.2:n.598+14T>A | ||
| XR_001747197.2:n.598+14T>A | ||
| XR_002957009.1:n.598+14T>A | ||
| XR_002957010.1:n.553T>A | ||
| XR_246103.3:n.598+14T>A | ||
| XR_945810.2:n.598+14T>A | ||
| NM_001324036.2:c.475+14T>A | NP_001310965.1:n.475+14T>A | |
| NM_001324037.2:c.395-1863T>A | NP_001310966.1:n.395-1863T>A | |
| NM_001324038.2:c.395-1863T>A | NP_001310967.1:n.395-1863T>A | |
| NR_136675.2:n.550+14T>A | ||
| NR_136676.2:n.731+14T>A | ||
| NR_136678.2:n.461+14T>A | ||
| NR_136677.2:n.731+14T>A |