Linked Data
ClinVar Variation Id:
424035
ClinVar RCV Id:
RCV000479383
dbSNP Id:
rs761345398
ExAC:
17:61560534 G / A
gnomAD v2:
17-61560534-G-A
gnomAD v3:
17-63483173-G-A
gnomAD v4:
17-63483173-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63483173G>A , CM000679.2:g.63483173G>A | GRCh38 |
| NC_000017.10:g.61560534G>A , CM000679.1:g.61560534G>A | GRCh37 |
| NC_000017.9:g.58914266G>A | NCBI36 |
| NG_011648.1:g.11101G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000290866.10:c.1487G>A MANE Select | ENSP00000290866.4:p.Arg496Gln | |
| ENST00000290866.9:c.1487G>A | ENSP00000290866.4:p.Arg496Gln | |
| ENST00000428043.5:c.1487G>A | ENSP00000397593.2:p.Arg496Gln | |
| ENST00000582678.5:c.*886G>A | ENSP00000462995.1:n.*886G>A | |
| ENST00000584529.5:n.1377-287G>A | ||
| NM_000789.3:c.1487G>A | NP_000780.1:p.Arg496Gln | |
| XM_005257110.1:c.938G>A | XP_005257167.1:p.Arg313Gln | |
| NM_000789.4:c.1487G>A MANE Select | NP_000780.1:p.Arg496Gln | |
| NM_001382700.1:c.920G>A | NP_001369629.1:p.Arg307Gln | |
| NM_001382701.1:c.635G>A | NP_001369630.1:p.Arg212Gln |