Linked Data
ClinVar Variation Id:
304807
dbSNP Id:
rs375713715
ExAC:
11:46744726 G / A
gnomAD v2:
11-46744726-G-A
gnomAD v3:
11-46723176-G-A
gnomAD v4:
11-46723176-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46723176G>A , CM000673.2:g.46723176G>A | GRCh38 |
| NC_000011.9:g.46744726G>A , CM000673.1:g.46744726G>A | GRCh37 |
| NC_000011.8:g.46701302G>A | NCBI36 |
| NG_008953.1:g.8984G>A , LRG_551:g.8984G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311907.10:c.317-4G>A MANE Select | ENSP00000308541.5:n.317-4G>A | |
| ENST00000311907.9:c.317-4G>A | ENSP00000308541.5:n.317-4G>A | |
| ENST00000442468.1:c.287-4G>A | ENSP00000387413.1:n.287-4G>A | |
| ENST00000530231.5:c.317-4G>A | ENSP00000433907.1:n.317-4G>A | |
| NM_000506.3:c.317-4G>A | NP_000497.1:n.317-4G>A | |
| NM_000506.4:c.317-4G>A , LRG_551t1:c.317-4G>A | NP_000497.1:n.317-4G>A | |
| NM_001311257.1:c.269-4G>A | NP_001298186.1:n.269-4G>A | |
| XR_428840.2:n.361-4G>A | ||
| XR_428840.4:n.352-4G>A | ||
| NM_000506.5:c.317-4G>A MANE Select | NP_000497.1:n.317-4G>A | |
| NM_001311257.2:c.269-4G>A | NP_001298186.1:n.269-4G>A |