Linked Data
ClinVar Variation Id:
1355576
dbSNP Id:
rs370035568
ExAC:
20:44528184 G / T
gnomAD v2:
20-44528184-G-T
gnomAD v3:
20-45899545-G-T
gnomAD v4:
20-45899545-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.45899545G>T , CM000682.2:g.45899545G>T | GRCh38 |
| NC_000020.10:g.44528184G>T , CM000682.1:g.44528184G>T | GRCh37 |
| NC_000020.9:g.43961591G>T | NCBI36 |
| NG_008291.1:g.13594G>T | |
| NG_012115.1:g.17603C>A | |
| NG_012115.2:g.17603C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372431.8:c.1283-7C>A MANE Select | ENSP00000361508.3:n.1283-7C>A | |
| ENST00000354050.8:c.1127-7C>A | ENSP00000335290.4:n.1127-7C>A | |
| ENST00000372420.5:c.1019-7C>A | ENSP00000361497.1:n.1019-7C>A | |
| ENST00000372431.7:c.1283-7C>A | ENSP00000361508.3:n.1283-7C>A | |
| ENST00000420868.2:c.998-7C>A | ENSP00000411671.2:n.998-7C>A | |
| ENST00000477313.5:c.1283-7C>A | ENSP00000417138.1:n.1283-7C>A | |
| NM_001242920.1:c.998-7C>A | NP_001229849.1:n.998-7C>A | |
| NM_001242921.1:c.1019-7C>A | NP_001229850.1:n.1019-7C>A | |
| NM_006227.3:c.1283-7C>A | NP_006218.1:n.1283-7C>A | |
| NM_182676.2:c.1127-7C>A | NP_872617.1:n.1127-7C>A | |
| NM_006227.4:c.1283-7C>A MANE Select | NP_006218.1:n.1283-7C>A | |
| NM_001242920.2:c.998-7C>A | NP_001229849.1:n.998-7C>A | |
| NM_182676.3:c.1127-7C>A | NP_872617.1:n.1127-7C>A |