Linked Data
ClinVar Variation Id:
561648
ClinVar RCV Id:
RCV000680983
dbSNP Id:
rs7146333
gnomAD v2:
14-50647466-G-C
gnomAD v3:
14-50180748-G-C
gnomAD v4:
14-50180748-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50180748G>C , CM000676.2:g.50180748G>C | GRCh38 |
| NC_000014.8:g.50647466G>C , CM000676.1:g.50647466G>C | GRCh37 |
| NC_000014.7:g.49717216G>C | NCBI36 |
| NG_051073.1:g.55946C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216373.10:c.859-66C>G MANE Select | ENSP00000216373.5:n.859-66C>G | |
| ENST00000216373.9:c.859-66C>G | ENSP00000216373.5:n.859-66C>G | |
| ENST00000543680.5:c.859-66C>G | ENSP00000445328.1:n.859-66C>G | |
| NM_006939.2:c.859-66C>G | NP_008870.2:n.859-66C>G | |
| XM_005268021.1:c.679-66C>G | XP_005268078.1:n.679-66C>G | |
| XM_011537103.1:c.820-66C>G | XP_011535405.1:n.820-66C>G | |
| XM_011537104.1:c.859-66C>G | XP_011535406.1:n.859-66C>G | |
| XR_943842.1:n.954-3039G>C | ||
| XR_943843.1:n.954-3039G>C | ||
| NM_006939.3:c.859-66C>G | NP_008870.2:n.859-66C>G | |
| NM_006939.4:c.859-66C>G MANE Select | NP_008870.2:n.859-66C>G |