Linked Data
ClinVar Variation Id:
2933051
ClinVar RCV Id:
RCV003790169
dbSNP Id:
rs751790521
gnomAD v2:
11-47463154-C-G
gnomAD v3:
11-47441602-C-G
gnomAD v4:
11-47441602-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.47441602C>G , CM000673.2:g.47441602C>G | GRCh38 |
| NC_000011.9:g.47463154C>G , CM000673.1:g.47463154C>G | GRCh37 |
| NC_000011.8:g.47419730C>G | NCBI36 |
| NG_008312.1:g.12577G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298854.7:c.912+9G>C MANE Select | ENSP00000298854.2:n.912+9G>C | |
| ENST00000298854.6:c.912+9G>C | ENSP00000298854.2:n.912+9G>C | |
| ENST00000352508.7:c.789+221G>C | ENSP00000298853.3:n.789+221G>C | |
| ENST00000524487.5:c.753+9G>C | ENSP00000435551.2:n.753+9G>C | |
| ENST00000528356.1:n.121+9G>C | ||
| ENST00000529341.1:c.789+221G>C | ENSP00000431732.1:n.789+221G>C | |
| NM_005055.4:c.912+9G>C | NP_005046.2:n.912+9G>C | |
| NM_032645.4:c.789+221G>C | NP_116034.2:n.789+221G>C | |
| XM_005253042.2:c.912+9G>C | XP_005253099.1:n.912+9G>C | |
| XM_005253043.2:c.789+221G>C | XP_005253100.1:n.789+221G>C | |
| XM_011520252.1:c.912+9G>C | XP_011518554.1:n.912+9G>C | |
| XM_011520253.1:c.912+9G>C | XP_011518555.1:n.912+9G>C | |
| XM_005253042.3:c.912+9G>C | XP_005253099.1:n.912+9G>C | |
| XM_005253043.3:c.789+221G>C | XP_005253100.1:n.789+221G>C | |
| NM_005055.5:c.912+9G>C MANE Select | NP_005046.2:n.912+9G>C | |
| NM_032645.5:c.789+221G>C | NP_116034.2:n.789+221G>C |