Linked Data
ClinVar Variation Id:
1973276
ClinVar RCV Id:
RCV002735865
dbSNP Id:
rs1233932812
gnomAD v2:
16-28856629-C-G
gnomAD v4:
16-28845308-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28845308C>G , CM000678.2:g.28845308C>G | GRCh38 |
| NC_000016.9:g.28856629C>G , CM000678.1:g.28856629C>G | GRCh37 |
| NC_000016.8:g.28764130C>G | NCBI36 |
| NG_008964.1:g.6101G>C | |
| NG_029706.2:g.3709C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313511.8:c.414+6G>C MANE Select | ENSP00000322439.3:n.414+6G>C | |
| ENST00000313511.7:c.414+6G>C | ENSP00000322439.3:n.414+6G>C | |
| ENST00000565012.1:c.248-253G>C | ENSP00000455007.1:n.248-253G>C | |
| NM_003321.4:c.414+6G>C | NP_003312.3:n.414+6G>C | |
| XM_011545928.1:c.414+6G>C | XP_011544230.1:n.414+6G>C | |
| NM_001365360.1:c.414+6G>C | NP_001352289.1:n.414+6G>C | |
| NM_003321.5:c.414+6G>C MANE Select | NP_003312.3:n.414+6G>C | |
| NM_001365360.2:c.414+6G>C | NP_001352289.1:n.414+6G>C |