Linked Data
ClinVar Variation Id:
528754
dbSNP Id:
rs779143585
ExAC:
1:17349172 G / A
gnomAD v2:
1-17349172-G-A
gnomAD v4:
1-17022677-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17022677G>A , CM000663.2:g.17022677G>A | GRCh38 |
| NC_000001.10:g.17349172G>A , CM000663.1:g.17349172G>A | GRCh37 |
| NC_000001.9:g.17221759G>A | NCBI36 |
| NG_012340.1:g.36494C>T , LRG_316:g.36494C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.525C>T | ENSP00000481376.2:p.Ala175= | |
| ENST00000491274.6:c.654C>T | ENSP00000480482.2:p.Ala218= | |
| ENST00000375499.8:c.696C>T MANE Select | ENSP00000364649.3:p.Ala232= | |
| ENST00000375499.7:c.696C>T | ENSP00000364649.3:p.Ala232= | |
| ENST00000475049.5:n.121C>T | ||
| ENST00000485092.5:n.360C>T | ||
| ENST00000485515.5:n.630C>T | ||
| NM_003000.2:c.696C>T , LRG_316t1:c.696C>T | NP_002991.2:p.Ala232= | |
| NM_003000.3:c.696C>T MANE Select | NP_002991.2:p.Ala232= |