Linked Data
ClinVar Variation Id:
1230064
ClinVar RCV Id:
RCV001614521
dbSNP Id:
rs2091787
gnomAD v2:
2-49244559-A-G
gnomAD v3:
2-49017420-A-G
gnomAD v4:
2-49017420-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.49017420A>G , CM000664.2:g.49017420A>G | GRCh38 |
| NC_000002.11:g.49244559A>G , CM000664.1:g.49244559A>G | GRCh37 |
| NC_000002.10:g.49098063A>G | NCBI36 |
| NG_008146.1:g.142072T>C , LRG_536:g.142072T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000406846.7:c.374+69T>C MANE Select | ENSP00000384708.2:n.374+69T>C | |
| ENST00000304421.8:c.374+69T>C | ENSP00000306780.4:n.374+69T>C | |
| ENST00000406846.6:c.374+69T>C | ENSP00000384708.2:n.374+69T>C | |
| ENST00000419927.1:c.374+69T>C | ENSP00000405775.1:n.374+69T>C | |
| ENST00000454032.5:c.374+69T>C | ENSP00000415504.1:n.374+69T>C | |
| NM_000145.3:c.374+69T>C , LRG_536t1:c.374+69T>C | NP_000136.2:n.374+69T>C | |
| NM_181446.2:c.374+69T>C | NP_852111.2:n.374+69T>C | |
| XM_011532733.1:c.374+69T>C | XP_011531035.1:n.374+69T>C | |
| XM_011532734.1:c.-211+69T>C | XP_011531036.1:n.-211+69T>C | |
| XM_011532737.1:c.374+69T>C | XP_011531039.1:n.374+69T>C | |
| XM_011532738.1:c.374+69T>C | XP_011531040.1:n.374+69T>C | |
| XM_011532739.1:c.374+69T>C | XP_011531041.1:n.374+69T>C | |
| XM_011532740.1:c.374+69T>C | XP_011531042.1:n.374+69T>C | |
| XM_011532733.2:c.374+69T>C | XP_011531035.1:n.374+69T>C | |
| XM_011532734.2:c.-211+69T>C | XP_011531036.1:n.-211+69T>C | |
| NM_000145.4:c.374+69T>C MANE Select | NP_000136.2:n.374+69T>C | |
| NM_181446.3:c.374+69T>C | NP_852111.2:n.374+69T>C |