Linked Data
ClinVar Variation Id:
259462
dbSNP Id:
rs12805398
ExAC:
11:101323770 C / T
gnomAD v2:
11-101323770-C-T
gnomAD v3:
11-101453039-C-T
gnomAD v4:
11-101453039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.101453039C>T , CM000673.2:g.101453039C>T | GRCh38 |
| NC_000011.9:g.101323770C>T , CM000673.1:g.101323770C>T | GRCh37 |
| NC_000011.8:g.100828980C>T | NCBI36 |
| NG_011476.1:g.135890G>A | |
| NG_011476.2:g.135890G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344327.8:c.2712G>A MANE Select | ENSP00000340913.3:p.Gln904= | |
| ENST00000344327.7:c.2712G>A | ENSP00000340913.3:p.Gln904= | |
| ENST00000348423.8:c.2364G>A | ENSP00000343672.4:p.Gln788= | |
| ENST00000360497.4:c.2547G>A | ENSP00000353687.4:p.Gln849= | |
| ENST00000532133.5:c.2478G>A | ENSP00000435574.1:p.Gln826= | |
| NM_004621.5:c.2712G>A | NP_004612.2:p.Gln904= | |
| XM_006718898.2:c.2637G>A | XP_006718961.1:p.Gln879= | |
| XM_011542968.1:c.2547G>A | XP_011541270.1:p.Gln849= | |
| XM_011542968.3:c.2547G>A | XP_011541270.1:p.Gln849= | |
| XM_017018221.2:c.2364G>A | XP_016873710.1:p.Gln788= | |
| XR_001747948.2:n.3069G>A | ||
| NM_004621.6:c.2712G>A MANE Select | NP_004612.2:p.Gln904= |