Linked Data
ClinVar Variation Id:
266114
ClinVar RCV Id:
RCV000256461
dbSNP Id:
rs886039909
gnomAD v4:
1-21864095-C-T
PubMed:
PMID:27521129
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.21864095C>T , CM000663.2:g.21864095C>T | GRCh38 |
| NC_000001.10:g.22190588C>T , CM000663.1:g.22190588C>T | GRCh37 |
| NC_000001.9:g.22063175C>T | NCBI36 |
| NG_016740.1:g.78163G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374695.8:c.4740+5G>A MANE Select | ENSP00000363827.3:n.4740+5G>A | |
| ENST00000374695.7:c.4740+5G>A | ENSP00000363827.3:n.4740+5G>A | |
| NM_001291860.1:c.4743+5G>A | NP_001278789.1:n.4743+5G>A | |
| NM_005529.6:c.4740+5G>A | NP_005520.4:n.4740+5G>A | |
| XM_006710594.2:c.5286+5G>A | XP_006710657.1:n.5286+5G>A | |
| XM_006710595.2:c.5238+5G>A | XP_006710658.1:n.5238+5G>A | |
| XM_006710596.2:c.5217+5G>A | XP_006710659.1:n.5217+5G>A | |
| XM_006710597.2:c.4740+5G>A | XP_006710660.1:n.4740+5G>A | |
| XM_011541317.1:c.5289+5G>A | XP_011539619.1:n.5289+5G>A | |
| XM_011541318.1:c.5289+5G>A | XP_011539620.1:n.5289+5G>A | |
| XM_011541319.1:c.5289+5G>A | XP_011539621.1:n.5289+5G>A | |
| XM_011541320.1:c.5289+5G>A | XP_011539622.1:n.5289+5G>A | |
| XM_011541321.1:c.4794+5G>A | XP_011539623.1:n.4794+5G>A | |
| XM_011541322.1:c.5289+5G>A | XP_011539624.1:n.5289+5G>A | |
| XM_011541318.2:c.5289+5G>A | XP_011539620.1:n.5289+5G>A | |
| XM_017001120.1:c.4935+5G>A | XP_016856609.1:n.4935+5G>A | |
| XM_017001121.1:c.4884+5G>A | XP_016856610.1:n.4884+5G>A | |
| XM_017001122.1:c.4881+5G>A | XP_016856611.1:n.4881+5G>A | |
| NM_005529.7:c.4740+5G>A MANE Select | NP_005520.4:n.4740+5G>A | |
| NM_001291860.2:c.4743+5G>A | NP_001278789.1:n.4743+5G>A |