Linked Data
ClinVar Variation Id:
1952120
ClinVar RCV Id:
RCV002676743
dbSNP Id:
rs1173082991
gnomAD v3:
2-113118039-T-C
gnomAD v4:
2-113118039-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.113118039T>C , CM000664.2:g.113118039T>C | GRCh38 |
| NC_000002.11:g.113875616T>C , CM000664.1:g.113875616T>C | GRCh37 |
| NC_000002.10:g.113592087T>C | NCBI36 |
| NG_021240.1:g.5147T>C , LRG_188:g.5147T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409052.6:c.-272-2027T>C | ENSP00000387210.1:n.-272-2027T>C | |
| ENST00000465812.6:n.775+374T>C | ||
| ENST00000696881.1:c.-273+11T>C | ENSP00000512949.1:n.-273+11T>C | |
| ENST00000259206.9:c.10+11T>C | ENSP00000259206.5:n.10+11T>C | |
| ENST00000354115.6:c.10+11T>C | ENSP00000329072.3:n.10+11T>C | |
| ENST00000361779.7:c.-210+11T>C | ENSP00000354816.3:n.-210+11T>C | |
| ENST00000409052.5:c.-272-2027T>C | ENSP00000387210.1:n.-272-2027T>C | |
| ENST00000486167.1:n.48+11T>C | ||
| NM_000577.4:c.10+11T>C | NP_000568.1:n.10+11T>C | |
| NM_173841.2:c.10+11T>C , LRG_188t1:c.10+11T>C | NP_776213.1:n.10+11T>C | |
| NM_173843.2:c.-210+11T>C | NP_776215.1:n.-210+11T>C | |
| XM_006712497.2:c.-273+11T>C | XP_006712560.1:n.-273+11T>C | |
| XM_011511121.1:c.-272-2027T>C | XP_011509423.1:n.-272-2027T>C | |
| NM_001318914.1:c.-273+11T>C | NP_001305843.1:n.-273+11T>C | |
| NM_000577.5:c.10+11T>C | NP_000568.1:n.10+11T>C | |
| NM_001318914.2:c.-273+11T>C | NP_001305843.1:n.-273+11T>C | |
| NM_173843.3:c.-210+11T>C | NP_776215.1:n.-210+11T>C | |
| NM_173841.3:c.10+11T>C | NP_776213.1:n.10+11T>C |