Linked Data
ClinVar Variation Id:
596968
ClinVar RCV Id:
RCV000732952
dbSNP Id:
rs905033055
gnomAD v2:
10-73767976-A-G
gnomAD v3:
10-72008218-A-G
gnomAD v4:
10-72008218-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.72008218A>G , CM000672.2:g.72008218A>G | GRCh38 |
| NC_000010.10:g.73767976A>G , CM000672.1:g.73767976A>G | GRCh37 |
| NC_000010.9:g.73437982A>G | NCBI36 |
| NG_012635.1:g.48857A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373115.5:c.1187A>G MANE Select | ENSP00000362207.4:p.Gln396Arg | |
| ENST00000373115.4:c.1187A>G | ENSP00000362207.4:p.Gln396Arg | |
| NM_004273.4:c.1187A>G | NP_004264.2:p.Gln396Arg | |
| XM_006718075.2:c.1187A>G | XP_006718138.1:p.Gln396Arg | |
| XM_011540369.1:c.1187A>G | XP_011538671.1:p.Gln396Arg | |
| XM_006718075.4:c.1187A>G | XP_006718138.1:p.Gln396Arg | |
| XM_011540369.2:c.1187A>G | XP_011538671.1:p.Gln396Arg | |
| NM_004273.5:c.1187A>G MANE Select | NP_004264.2:p.Gln396Arg |