Linked Data
ClinVar Variation Id:
528757
dbSNP Id:
rs1553178737
gnomAD v3:
1-17044817-G-A
gnomAD v4:
1-17044817-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17044817G>A , CM000663.2:g.17044817G>A | GRCh38 |
| NC_000001.10:g.17371312G>A , CM000663.1:g.17371312G>A | GRCh37 |
| NC_000001.9:g.17243899G>A | NCBI36 |
| NG_012340.1:g.14354C>T , LRG_316:g.14354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.-28C>T | ENSP00000481376.2:n.-28C>T | |
| ENST00000491274.6:c.102C>T | ENSP00000480482.2:p.Asp34= | |
| ENST00000375499.8:c.144C>T MANE Select | ENSP00000364649.3:p.Asp48= | |
| ENST00000375499.7:c.144C>T | ENSP00000364649.3:p.Asp48= | |
| ENST00000463045.2:c.-28C>T | ENSP00000481376.1:n.-28C>T | |
| ENST00000466613.2:n.156C>T | ||
| ENST00000475506.1:n.61C>T | ||
| ENST00000485515.5:n.132C>T | ||
| ENST00000491274.5:c.102C>T | ENSP00000480482.1:p.Asp34= | |
| NM_003000.2:c.144C>T , LRG_316t1:c.144C>T | NP_002991.2:p.Asp48= | |
| NM_003000.3:c.144C>T MANE Select | NP_002991.2:p.Asp48= |