Linked Data
ClinVar Variation Id:
36383
dbSNP Id:
rs386134241
gnomAD v3:
X-154558657-C-T
gnomAD v4:
X-154558657-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154558657C>T , CM000685.2:g.154558657C>T | GRCh38 |
| NC_000023.10:g.153786872C>T , CM000685.1:g.153786872C>T | GRCh37 |
| NC_000023.9:g.153440066C>T | NCBI36 |
| NG_009896.1:g.21414C>T , LRG_70:g.21414C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000413620.6:c.482+7C>T | ENSP00000398579.2:n.482+7C>T | |
| ENST00000422680.6:c.518+7C>T | ENSP00000390368.3:n.518+7C>T | |
| ENST00000440286.6:c.518+7C>T | ENSP00000394934.2:n.518+7C>T | |
| ENST00000445622.6:c.518+7C>T | ENSP00000395205.2:n.518+7C>T | |
| ENST00000615186.5:c.116+7C>T | ENSP00000479144.2:n.116+7C>T | |
| ENST00000686774.1:c.*3C>T | ENSP00000510218.1:n.*3C>T | |
| ENST00000687445.1:n.890+7C>T | ||
| ENST00000689906.1:c.518+7C>T | ENSP00000508630.1:n.518+7C>T | |
| ENST00000692816.1:n.893+7C>T | ||
| ENST00000692948.1:c.518+7C>T | ENSP00000508773.1:n.518+7C>T | |
| ENST00000693029.1:n.893+7C>T | ||
| ENST00000594239.6:c.518+7C>T MANE Select | ENSP00000471166.1:n.518+7C>T | |
| ENST00000413620.5:c.482+7C>T | ENSP00000398579.1:n.482+7C>T | |
| ENST00000440286.5:c.518+7C>T | ENSP00000394934.1:n.518+7C>T | |
| ENST00000594239.5:c.518+7C>T | ENSP00000471166.1:n.518+7C>T | |
| ENST00000611071.4:c.518+7C>T | ENSP00000479662.1:n.518+7C>T | |
| ENST00000611176.4:c.518+7C>T | ENSP00000478616.1:n.518+7C>T | |
| ENST00000612051.1:c.*510+7C>T | ENSP00000480431.1:n.*510+7C>T | |
| ENST00000615186.4:c.116+7C>T | ENSP00000479144.1:n.116+7C>T | |
| ENST00000615874.4:c.515+7C>T | ENSP00000483381.1:n.515+7C>T | |
| ENST00000617207.4:c.515+7C>T | ENSP00000484023.1:n.515+7C>T | |
| ENST00000617838.1:n.200-4153C>T | ||
| ENST00000618670.4:c.722+7C>T | ENSP00000483825.1:n.722+7C>T | |
| ENST00000619941.4:c.518+7C>T | ENSP00000478979.1:n.518+7C>T | |
| NM_001099856.3:c.722+7C>T | NP_001093326.2:n.722+7C>T | |
| NM_001099857.2:c.518+7C>T | NP_001093327.1:n.518+7C>T | |
| NM_001145255.2:c.518+7C>T | NP_001138727.1:n.518+7C>T | |
| NM_003639.4:c.518+7C>T | NP_003630.1:n.518+7C>T | |
| XM_005274760.3:c.719+7C>T | XP_005274817.1:n.719+7C>T | |
| XM_005274761.3:c.722+7C>T | XP_005274818.1:n.722+7C>T | |
| XM_005274764.3:c.515+7C>T | XP_005274821.1:n.515+7C>T | |
| XM_011531203.1:c.722+7C>T | XP_011529505.1:n.722+7C>T | |
| XM_011531204.1:c.518+7C>T | XP_011529506.1:n.518+7C>T | |
| XM_011531205.1:c.518+7C>T | XP_011529507.1:n.518+7C>T | |
| XM_011531206.1:c.722+7C>T | XP_011529508.1:n.722+7C>T | |
| XM_011531207.1:c.722+7C>T | XP_011529509.1:n.722+7C>T | |
| NM_001099856.4:c.722+7C>T | NP_001093326.2:n.722+7C>T | |
| NM_001321396.1:c.518+7C>T | NP_001308325.1:n.518+7C>T | |
| NM_001321397.1:c.515+7C>T | NP_001308326.1:n.515+7C>T | |
| NM_001099856.6:c.722+7C>T | NP_001093326.2:n.722+7C>T | |
| NM_001099857.4:c.518+7C>T | NP_001093327.1:n.518+7C>T | |
| NM_001145255.4:c.518+7C>T | NP_001138727.1:n.518+7C>T | |
| NM_001321396.3:c.518+7C>T | NP_001308325.1:n.518+7C>T | |
| NM_001321397.3:c.515+7C>T | NP_001308326.1:n.515+7C>T | |
| NM_001377312.1:c.518+7C>T | NP_001364241.1:n.518+7C>T | |
| NM_001377313.1:c.515+7C>T | NP_001364242.1:n.515+7C>T | |
| NM_001377314.1:c.515+7C>T | NP_001364243.1:n.515+7C>T | |
| NM_001377315.1:c.399+2281C>T | NP_001364244.1:n.399+2281C>T | |
| NR_165197.1:n.540+2281C>T | ||
| NM_001099857.5:c.518+7C>T MANE Select | NP_001093327.1:n.518+7C>T |