Linked Data
ClinVar Variation Id:
2931532
ClinVar RCV Id:
RCV003785234
dbSNP Id:
rs1159217971
gnomAD v2:
11-47463302-G-C
gnomAD v4:
11-47441750-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441750G>C , CM000673.2:g.47441750G>C | GRCh38 |
| NC_000011.9:g.47463302G>C , CM000673.1:g.47463302G>C | GRCh37 |
| NC_000011.8:g.47419878G>C | NCBI36 |
| NG_008312.1:g.12429C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.790-17C>G MANE Select | ENSP00000298854.2:n.790-17C>G | |
| ENST00000298854.6:c.790-17C>G | ENSP00000298854.2:n.790-17C>G | |
| ENST00000352508.7:c.789+73C>G | ENSP00000298853.3:n.789+73C>G | |
| ENST00000524487.5:c.631-17C>G | ENSP00000435551.2:n.631-17C>G | |
| ENST00000529341.1:c.789+73C>G | ENSP00000431732.1:n.789+73C>G | |
| NM_005055.4:c.790-17C>G | NP_005046.2:n.790-17C>G | |
| NM_032645.4:c.789+73C>G | NP_116034.2:n.789+73C>G | |
| XM_005253042.2:c.790-17C>G | XP_005253099.1:n.790-17C>G | |
| XM_005253043.2:c.789+73C>G | XP_005253100.1:n.789+73C>G | |
| XM_011520252.1:c.790-17C>G | XP_011518554.1:n.790-17C>G | |
| XM_011520253.1:c.790-17C>G | XP_011518555.1:n.790-17C>G | |
| XM_005253042.3:c.790-17C>G | XP_005253099.1:n.790-17C>G | |
| XM_005253043.3:c.789+73C>G | XP_005253100.1:n.789+73C>G | |
| NM_005055.5:c.790-17C>G MANE Select | NP_005046.2:n.790-17C>G | |
| NM_032645.5:c.789+73C>G | NP_116034.2:n.789+73C>G |