Linked Data
ClinVar Variation Id:
2811063
ClinVar RCV Id:
RCV003682727
dbSNP Id:
rs1888840432
gnomAD v3:
14-81092628-C-T
gnomAD v4:
14-81092628-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.81092628C>T , CM000676.2:g.81092628C>T | GRCh38 |
| NC_000014.8:g.81558972C>T , CM000676.1:g.81558972C>T | GRCh37 |
| NC_000014.7:g.80628725C>T | NCBI36 |
| NG_009206.1:g.142104C>T , LRG_523:g.142104C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298171.7:c.545+20C>T MANE Select | ENSP00000298171.2:n.545+20C>T | |
| ENST00000636454.1:n.463+20C>T | ||
| ENST00000298171.6:c.545+20C>T | ENSP00000298171.2:n.545+20C>T | |
| ENST00000342443.10:c.545+20C>T | ENSP00000340113.6:n.545+20C>T | |
| ENST00000541158.6:c.545+20C>T | ENSP00000441235.2:n.545+20C>T | |
| ENST00000554263.5:c.545+20C>T | ENSP00000451202.1:n.545+20C>T | |
| ENST00000554435.1:c.545+20C>T | ENSP00000450549.1:n.545+20C>T | |
| NM_000369.2:c.545+20C>T , LRG_523t1:c.545+20C>T | NP_000360.2:n.545+20C>T | |
| NM_001018036.2:c.545+20C>T | NP_001018046.1:n.545+20C>T | |
| NM_001142626.2:c.545+20C>T | NP_001136098.1:n.545+20C>T | |
| XM_005268037.3:c.545+20C>T | XP_005268094.1:n.545+20C>T | |
| XM_005268039.1:c.545+20C>T | XP_005268096.1:n.545+20C>T | |
| XM_006720245.1:c.545+20C>T | XP_006720308.1:n.545+20C>T | |
| XM_011537119.1:c.266+20C>T | XP_011535421.1:n.266+20C>T | |
| XR_245790.3:n.2480+954G>A | ||
| XR_944075.1:n.1260-221G>A | ||
| XR_944076.1:n.1255+954G>A | ||
| XR_944077.1:n.1259+954G>A | ||
| XR_944078.1:n.1259+954G>A | ||
| XM_005268037.4:c.545+20C>T | XP_005268094.1:n.545+20C>T | |
| XM_011537119.2:c.266+20C>T | XP_011535421.1:n.266+20C>T | |
| XR_001751018.2:n.700-221G>A | ||
| XR_001751019.2:n.699+954G>A | ||
| XR_001751020.2:n.699+954G>A | ||
| XR_001751021.1:n.3148-221G>A | ||
| XR_001751022.1:n.3147+954G>A | ||
| XR_001751023.1:n.3280+954G>A | ||
| XR_001751024.2:n.700-221G>A | ||
| XR_944075.3:n.1324-221G>A | ||
| NM_000369.4:c.545+20C>T | NP_000360.2:n.545+20C>T | |
| NM_001018036.3:c.545+20C>T | NP_001018046.1:n.545+20C>T | |
| NM_001142626.3:c.545+20C>T | NP_001136098.1:n.545+20C>T | |
| NM_000369.5:c.545+20C>T MANE Select | NP_000360.2:n.545+20C>T |