Linked Data
ClinVar Variation Id:
690408
ClinVar RCV Id:
RCV000851343
dbSNP Id:
rs1567115899
gnomAD v4:
15-66781153-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.66781153A>G , CM000677.2:g.66781153A>G | GRCh38 |
| NC_000015.9:g.67073491A>G , CM000677.1:g.67073491A>G | GRCh37 |
| NC_000015.8:g.64860545A>G | NCBI36 |
| NG_012244.1:g.83818A>G | |
| NG_012244.2:g.83818A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000288840.10:c.1109A>G MANE Select | ENSP00000288840.5:p.Gln370Arg | |
| ENST00000288840.9:c.1109A>G | ENSP00000288840.5:p.Gln370Arg | |
| ENST00000557916.5:c.1241A>G | ENSP00000452955.1:n.1241A>G | |
| ENST00000559931.5:c.413A>G | ENSP00000453446.1:n.413A>G | |
| NM_005585.4:c.1109A>G | NP_005576.3:p.Gln370Arg | |
| NR_027654.1:n.2164A>G | ||
| XM_011521561.1:c.326A>G | XP_011519863.1:p.Gln109Arg | |
| XR_931825.1:n.2508A>G | ||
| XM_011521561.2:c.326A>G | XP_011519863.1:p.Gln109Arg | |
| NM_005585.5:c.1109A>G MANE Select | NP_005576.3:p.Gln370Arg | |
| NR_027654.2:n.2264A>G |