Linked Data
ClinVar Variation Id:
1587654
ClinVar RCV Id:
RCV002103446
dbSNP Id:
rs775090510
ExAC:
4:786245 G / A
gnomAD v2:
4-786245-G-A
gnomAD v3:
4-792457-G-A
gnomAD v4:
4-792457-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.792457G>A , CM000666.2:g.792457G>A | GRCh38 |
| NC_000004.11:g.786245G>A , CM000666.1:g.786245G>A | GRCh37 |
| NC_000004.10:g.776245G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304062.11:c.183C>T MANE Select | ENSP00000305613.6:p.Ala61= | |
| ENST00000304062.10:c.183C>T | ENSP00000305613.6:p.Ala61= | |
| ENST00000504062.1:c.138C>T | ENSP00000421947.1:p.Ala46= | |
| ENST00000505203.1:c.130-10C>T | ENSP00000425960.1:n.130-10C>T | |
| ENST00000506404.1:n.236C>T | ||
| NM_006651.3:c.183C>T | NP_006642.1:p.Ala61= | |
| XM_011513391.1:c.138C>T | XP_011511693.1:p.Ala46= | |
| XR_925031.1:n.1936-2823G>A | ||
| XR_925032.1:n.1922-2823G>A | ||
| XR_002959773.1:n.2378-2823G>A | ||
| XR_925031.3:n.2296-2823G>A | ||
| XR_925032.3:n.2282-2823G>A | ||
| NM_006651.4:c.183C>T MANE Select | NP_006642.1:p.Ala61= |