Linked Data
ClinVar Variation Id:
1972677
ClinVar RCV Id:
RCV002730692
dbSNP Id:
rs200373527
ExAC:
18:77455231 T / A
gnomAD v2:
18-77455231-T-A
gnomAD v3:
18-79695231-T-A
gnomAD v4:
18-79695231-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.79695231T>A , CM000680.2:g.79695231T>A | GRCh38 |
| NC_000018.9:g.77455231T>A , CM000680.1:g.77455231T>A | GRCh37 |
| NC_000018.8:g.75556219T>A | NCBI36 |
| NG_007988.1:g.20431T>A , LRG_236:g.20431T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613122.5:c.321T>A MANE Select | ENSP00000484525.2:p.Val107= | |
| ENST00000075430.11:c.321T>A | ENSP00000075430.7:p.Val107= | |
| ENST00000299543.8:c.-37T>A | ENSP00000299543.8:n.-37T>A | |
| ENST00000590635.5:c.-37T>A | ENSP00000467563.1:n.-37T>A | |
| ENST00000591598.5:c.117T>A | ENSP00000465119.1:p.Val39= | |
| ENST00000613122.4:c.321T>A | ENSP00000484525.1:p.Val107= | |
| NM_001202504.1:c.-37T>A | NP_001189433.1:n.-37T>A | |
| NM_004715.4:c.321T>A , LRG_236t1:c.321T>A | NP_004706.3:p.Val107= | |
| NM_048368.3:c.321T>A | NP_430255.2:p.Val107= | |
| XM_005266782.2:c.321T>A | XP_005266839.1:p.Val107= | |
| XM_011526261.1:c.321T>A | XP_011524563.1:p.Val107= | |
| NM_001318511.1:c.321T>A | NP_001305440.1:p.Val107= | |
| NM_001318511.2:c.321T>A | NP_001305440.1:p.Val107= | |
| NM_004715.5:c.321T>A MANE Select | NP_004706.3:p.Val107= | |
| NM_048368.4:c.321T>A | NP_430255.2:p.Val107= |