Linked Data
ClinVar Variation Id:
1900773
ClinVar RCV Id:
RCV002585893
dbSNP Id:
rs201582550
ExAC:
4:1818434 G / A
gnomAD v2:
4-1818434-G-A
gnomAD v3:
4-1816707-G-A
gnomAD v4:
4-1816707-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1816707G>A , CM000666.2:g.1816707G>A | GRCh38 |
| NC_000004.11:g.1818434G>A , CM000666.1:g.1818434G>A | GRCh37 |
| NC_000004.10:g.1788232G>A | NCBI36 |
| NG_013063.1:g.44541C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302787.3:c.1931+20C>T MANE Select | ENSP00000305653.2:n.1931+20C>T | |
| ENST00000302787.2:c.1931+20C>T | ENSP00000305653.2:n.1931+20C>T | |
| NM_012318.2:c.1931+20C>T | NP_036450.1:n.1931+20C>T | |
| XM_005247970.3:c.1016+20C>T | XP_005248027.1:n.1016+20C>T | |
| XM_006713884.1:c.1928+20C>T | XP_006713947.1:n.1928+20C>T | |
| NM_012318.3:c.1931+20C>T MANE Select | NP_036450.1:n.1931+20C>T |