Linked Data
ClinVar Variation Id:
2352284
ClinVar RCV Id:
RCV004194541
dbSNP Id:
rs1187472492
gnomAD v3:
5-15936795-G-A
gnomAD v4:
5-15936795-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.15936795G>A , CM000667.2:g.15936795G>A | GRCh38 |
| NC_000005.9:g.15936904G>A , CM000667.1:g.15936904G>A | GRCh37 |
| NC_000005.8:g.15989904G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000504595.2:c.1085G>A MANE Select | ENSP00000423630.1:p.Arg362Gln | |
| ENST00000329673.8:c.959G>A | ENSP00000329632.8:p.Arg320Gln | |
| ENST00000504595.1:c.1085G>A | ENSP00000423630.1:p.Arg362Gln | |
| ENST00000510662.1:c.944G>A | ENSP00000425184.1:p.Arg315Gln | |
| NM_001278317.1:c.944G>A | NP_001265246.1:p.Arg315Gln | |
| NM_012304.4:c.1085G>A | NP_036436.1:p.Arg362Gln | |
| XM_005248273.3:c.1070G>A | XP_005248330.1:p.Arg357Gln | |
| XM_011513998.1:c.944G>A | XP_011512300.1:p.Arg315Gln | |
| XM_017009262.2:c.1070G>A | XP_016864751.1:p.Arg357Gln | |
| NM_012304.5:c.1085G>A MANE Select | NP_036436.1:p.Arg362Gln | |
| NM_001278317.2:c.944G>A | NP_001265246.1:p.Arg315Gln |