Linked Data
ClinVar Variation Id:
2889118
ClinVar RCV Id:
RCV003629004
dbSNP Id:
rs766940477
ExAC:
15:90631745 A / G
gnomAD v2:
15-90631745-A-G
gnomAD v3:
15-90088513-A-G
gnomAD v4:
15-90088513-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088513A>G , CM000677.2:g.90088513A>G | GRCh38 |
| NC_000015.9:g.90631745A>G , CM000677.1:g.90631745A>G | GRCh37 |
| NC_000015.8:g.88432749A>G | NCBI36 |
| NG_023302.1:g.18964T>C , LRG_611:g.18964T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.535-11T>C MANE Select | ENSP00000331897.4:n.535-11T>C | |
| ENST00000330062.7:c.535-11T>C | ENSP00000331897.3:n.535-11T>C | |
| ENST00000540499.2:c.379-11T>C | ENSP00000446147.2:n.379-11T>C | |
| ENST00000559482.5:c.208-11T>C | ENSP00000453016.1:n.208-11T>C | |
| ENST00000560061.1:c.*160-11T>C | ENSP00000453254.1:n.*160-11T>C | |
| NM_001289910.1:c.379-11T>C , LRG_611t1:c.379-11T>C | NP_001276839.1:n.379-11T>C | |
| NM_001290114.1:c.145-11T>C | NP_001277043.1:n.145-11T>C | |
| NM_002168.3:c.535-11T>C , LRG_611t2:c.535-11T>C | NP_002159.2:n.535-11T>C | |
| NM_001290114.2:c.145-11T>C | NP_001277043.1:n.145-11T>C | |
| NM_002168.4:c.535-11T>C MANE Select | NP_002159.2:n.535-11T>C |