Linked Data
ClinVar Variation Id:
1425
ClinVar RCV Id:
RCV000001490
RCV000081740
RCV000203236
RCV000624532
RCV000721969
RCV001273229
RCV002512647
dbSNP Id:
rs121918243
ExAC:
1:45974520 G / A
gnomAD v2:
1-45974520-G-A
gnomAD v3:
1-45508848-G-A
gnomAD v4:
1-45508848-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.45508848G>A , CM000663.2:g.45508848G>A | GRCh38 |
| NC_000001.10:g.45974520G>A , CM000663.1:g.45974520G>A | GRCh37 |
| NC_000001.9:g.45747107G>A | NCBI36 |
| NG_013378.1:g.13665G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000401061.9:c.482G>A MANE Select | ENSP00000383840.4:p.Arg161Gln | |
| ENST00000401061.8:c.482G>A | ENSP00000383840.4:p.Arg161Gln | |
| ENST00000616135.1:c.311G>A | ENSP00000478859.1:p.Arg104Gln | |
| NM_015506.2:c.482G>A | NP_056321.2:p.Arg161Gln | |
| XM_005270724.3:c.287G>A | XP_005270781.1:p.Arg96Gln | |
| XM_011541204.1:c.311G>A | XP_011539506.1:p.Arg104Gln | |
| NM_001330540.1:c.311G>A | NP_001317469.1:p.Arg104Gln | |
| XM_005270724.5:c.287G>A | XP_005270781.1:p.Arg96Gln | |
| NM_015506.3:c.482G>A MANE Select | NP_056321.2:p.Arg161Gln | |
| NM_001330540.2:c.311G>A | NP_001317469.1:p.Arg104Gln |