Linked Data
ClinVar Variation Id:
684235
ClinVar RCV Id:
RCV000844440
dbSNP Id:
rs116780433
gnomAD v2:
5-145494084-G-C
gnomAD v3:
5-146114521-G-C
gnomAD v4:
5-146114521-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.146114521G>C , CM000667.2:g.146114521G>C | GRCh38 |
| NC_000005.9:g.145494084G>C , CM000667.1:g.145494084G>C | GRCh37 |
| NC_000005.8:g.145474277G>C | NCBI36 |
| NG_042294.1:g.73211C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394434.7:c.3326-210C>G MANE Select | ENSP00000377954.2:n.3326-210C>G | |
| ENST00000504323.6:n.3756-210C>G | ||
| ENST00000506231.6:n.6208-210C>G | ||
| ENST00000674158.1:c.2945-210C>G | ENSP00000501474.1:n.2945-210C>G | |
| ENST00000674170.1:c.*1764-210C>G | ENSP00000501381.1:n.*1764-210C>G | |
| ENST00000674174.1:c.3164-210C>G | ENSP00000501434.1:n.3164-210C>G | |
| ENST00000674181.1:c.1573-210C>G | ||
| ENST00000674191.1:c.2870-210C>G | ENSP00000501478.1:n.2870-210C>G | |
| ENST00000674218.1:n.6113-210C>G | ||
| ENST00000674270.1:c.3188-210C>G | ENSP00000501365.1:n.3188-210C>G | |
| ENST00000674277.1:c.3161-210C>G | ENSP00000501510.1:n.3161-210C>G | |
| ENST00000674290.1:c.3290-210C>G | ENSP00000501435.1:n.3290-210C>G | |
| ENST00000674309.1:c.*682-210C>G | ENSP00000501400.1:n.*682-210C>G | |
| ENST00000674310.1:c.*53-210C>G | ENSP00000501486.1:n.*53-210C>G | |
| ENST00000674383.1:n.5979-210C>G | ||
| ENST00000674398.1:c.3323-210C>G | ENSP00000501476.1:n.3323-210C>G | |
| ENST00000674447.1:c.3245-210C>G | ENSP00000501376.1:n.3245-210C>G | |
| ENST00000674467.1:c.*1248-210C>G | ENSP00000501351.1:n.*1248-210C>G | |
| ENST00000674471.1:n.3594-210C>G | ||
| ENST00000674479.1:n.4363-210C>G | ||
| ENST00000274562.13:c.1253-210C>G | ENSP00000274562.10:n.1253-210C>G | |
| ENST00000394434.6:c.3326-210C>G | ENSP00000377954.2:n.3326-210C>G | |
| ENST00000506231.5:n.3307-210C>G | ||
| ENST00000510191.5:c.3164-210C>G | ENSP00000426005.1:n.3164-210C>G | |
| NM_020117.9:c.3326-210C>G | NP_064502.9:n.3326-210C>G | |
| XM_011537655.1:c.3188-210C>G | XP_011535957.1:n.3188-210C>G | |
| XM_011537656.1:c.3164-210C>G | XP_011535958.1:n.3164-210C>G | |
| XM_011537657.1:c.3113-210C>G | XP_011535959.1:n.3113-210C>G | |
| NM_001317964.1:c.3188-210C>G | NP_001304893.1:n.3188-210C>G | |
| NM_001317965.1:c.3164-210C>G | NP_001304894.1:n.3164-210C>G | |
| NM_016460.3:c.3245-210C>G | NP_057544.2:n.3245-210C>G | |
| NM_020117.10:c.3326-210C>G | NP_064502.9:n.3326-210C>G | |
| XM_011537656.3:c.3164-210C>G | XP_011535958.1:n.3164-210C>G | |
| NM_020117.11:c.3326-210C>G MANE Select | NP_064502.9:n.3326-210C>G | |
| NM_001317964.2:c.3188-210C>G | NP_001304893.1:n.3188-210C>G | |
| NM_001317965.2:c.3164-210C>G | NP_001304894.1:n.3164-210C>G | |
| NM_016460.4:c.3245-210C>G | NP_057544.2:n.3245-210C>G |