Linked Data
ClinVar Variation Id:
1146
ClinVar RCV Id:
RCV000001205
dbSNP Id:
rs778922921
gnomAD v3:
2-190296956-G-C
gnomAD v4:
2-190296956-G-C
PubMed:
PMID:17160907
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.190296956G>C , CM000664.2:g.190296956G>C | GRCh38 |
| NC_000002.11:g.191161682G>C , CM000664.1:g.191161682G>C | GRCh37 |
| NC_000002.10:g.190869927G>C | NCBI36 |
| NG_017062.1:g.28090C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359678.10:c.79-3C>G MANE Select | ENSP00000352706.5:n.79-3C>G | |
| ENST00000359678.9:c.79-3C>G | ENSP00000352706.5:n.79-3C>G | |
| ENST00000392332.7:c.79-3C>G | ENSP00000376144.3:n.79-3C>G | |
| ENST00000409934.1:c.241-3C>G | ENSP00000387247.1:n.241-3C>G | |
| ENST00000622246.4:c.64-3C>G | ENSP00000481055.1:n.64-3C>G | |
| NM_014362.3:c.79-3C>G | NP_055177.2:n.79-3C>G | |
| NM_198047.2:c.79-3C>G | NP_932164.1:n.79-3C>G | |
| XM_011510953.1:c.79-3C>G | XP_011509255.1:n.79-3C>G | |
| XR_922903.1:n.323-3C>G | ||
| XM_011510953.2:c.79-3C>G | XP_011509255.1:n.79-3C>G | |
| XR_922903.2:n.142-3C>G | ||
| NM_014362.4:c.79-3C>G MANE Select | NP_055177.2:n.79-3C>G | |
| NM_198047.3:c.79-3C>G | NP_932164.1:n.79-3C>G |