Linked Data
ClinVar Variation Id:
2296245
ClinVar RCV Id:
RCV002850285
dbSNP Id:
rs1175120451
gnomAD v2:
16-70515377-T-C
gnomAD v3:
16-70481474-T-C
gnomAD v4:
16-70481474-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.70481474T>C , CM000678.2:g.70481474T>C | GRCh38 |
| NC_000016.9:g.70515377T>C , CM000678.1:g.70515377T>C | GRCh37 |
| NC_000016.8:g.69072878T>C | NCBI36 |
| NG_027529.1:g.47081A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000534772.2:c.*2196A>G | ENSP00000461912.2:n.*2196A>G | |
| ENST00000703106.1:c.2165A>G | ENSP00000515173.1:n.2165A>G | |
| ENST00000703107.1:c.*2049A>G | ENSP00000515174.1:n.*2049A>G | |
| ENST00000703108.1:c.*568A>G | ENSP00000515175.1:n.*568A>G | |
| ENST00000703109.1:c.2153A>G | ENSP00000515176.1:p.Gln718Arg | |
| ENST00000703110.1:c.*1622A>G | ENSP00000515177.1:n.*1622A>G | |
| ENST00000703111.1:n.2403A>G | ||
| ENST00000703112.1:n.3064A>G | ||
| ENST00000703113.1:c.*1533A>G | ENSP00000515178.1:n.*1533A>G | |
| ENST00000703114.1:c.*769A>G | ENSP00000515179.1:n.*769A>G | |
| ENST00000703115.1:c.1233A>G | ENSP00000515180.1:n.1233A>G | |
| ENST00000323786.10:c.2120A>G MANE Select | ENSP00000315775.5:p.Gln707Arg | |
| ENST00000564415.6:c.*1900A>G | ENSP00000456653.2:n.*1900A>G | |
| ENST00000674443.1:c.2045A>G | ENSP00000501405.1:p.Gln682Arg | |
| ENST00000323786.9:c.2120A>G | ENSP00000315775.5:p.Gln707Arg | |
| ENST00000393612.8:c.2057A>G | ENSP00000377236.5:p.Gln686Arg | |
| ENST00000482252.5:c.2267A>G | ENSP00000432802.1:n.2267A>G | |
| ENST00000526700.5:n.1296A>G | ||
| ENST00000530314.5:n.2799A>G | ||
| ENST00000564415.5:c.*1900A>G | ENSP00000456653.1:n.*1900A>G | |
| ENST00000565715.1:c.182A>G | ENSP00000455693.1:p.Gln61Arg | |
| NM_001195139.1:c.2057A>G | NP_001182068.1:p.Gln686Arg | |
| NM_015386.2:c.2120A>G | NP_056201.2:p.Gln707Arg | |
| XM_011522981.1:c.1694A>G | XP_011521283.1:p.Gln565Arg | |
| XM_011522981.3:c.1694A>G | XP_011521283.1:p.Gln565Arg | |
| XM_024450224.1:c.1139A>G | XP_024305992.1:p.Gln380Arg | |
| XR_001751889.1:n.2003A>G | ||
| XR_933266.2:n.2066A>G | ||
| NM_015386.3:c.2120A>G MANE Select | NP_056201.2:p.Gln707Arg | |
| NM_001195139.2:c.2045A>G | NP_001182068.2:p.Gln682Arg | |
| NM_001365426.1:c.1694A>G | NP_001352355.1:p.Gln565Arg | |
| NR_158212.1:n.2079A>G |