Linked Data
ClinVar Variation Id:
517911
dbSNP Id:
rs1471456899
gnomAD v2:
14-77786757-G-C
gnomAD v3:
14-77320414-G-C
gnomAD v4:
14-77320414-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77320414G>C , CM000676.2:g.77320414G>C | GRCh38 |
| NC_000014.8:g.77786757G>C , CM000676.1:g.77786757G>C | GRCh37 |
| NC_000014.7:g.76856510G>C | NCBI36 |
| NG_008897.1:g.5469C>G , LRG_844:g.5469C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.248+20C>G | ENSP00000451967.2:n.248+20C>G | |
| ENST00000682247.1:c.248+20C>G | ENSP00000507213.1:n.248+20C>G | |
| ENST00000682382.1:c.196+20C>G | ||
| ENST00000682467.1:c.248+20C>G | ENSP00000508062.1:n.248+20C>G | |
| ENST00000682795.1:c.248+20C>G | ENSP00000507574.1:n.248+20C>G | |
| ENST00000683188.1:c.43+20C>G | ||
| ENST00000683828.1:c.117+20C>G | ||
| ENST00000684344.1:c.*16C>G | ENSP00000507432.1:n.*16C>G | |
| ENST00000684534.1:n.271+20C>G | ||
| ENST00000261534.9:c.248+20C>G MANE Select | ENSP00000261534.4:n.248+20C>G | |
| ENST00000261534.8:c.248+20C>G | ENSP00000261534.4:n.248+20C>G | |
| ENST00000452340.7:n.271+20C>G | ||
| ENST00000556326.5:c.248+20C>G | ENSP00000450630.1:n.248+20C>G | |
| NM_013382.5:c.248+20C>G , LRG_844t1:c.248+20C>G | NP_037514.2:n.248+20C>G | |
| XM_011536675.1:c.248+20C>G | XP_011534977.1:n.248+20C>G | |
| XM_011536676.1:c.-1+20C>G | XP_011534978.1:n.-1+20C>G | |
| XM_011536677.1:c.248+20C>G | XP_011534979.1:n.248+20C>G | |
| XM_011536678.1:c.248+20C>G | XP_011534980.1:n.248+20C>G | |
| XM_011536680.1:c.248+20C>G | XP_011534982.1:n.248+20C>G | |
| XR_943416.1:n.451+20C>G | ||
| XM_011536675.2:c.248+20C>G | XP_011534977.1:n.248+20C>G | |
| XM_011536676.2:c.-1+20C>G | XP_011534978.1:n.-1+20C>G | |
| XM_011536677.3:c.248+20C>G | XP_011534979.1:n.248+20C>G | |
| XR_001750279.1:n.448+20C>G | ||
| XR_001750282.1:n.452+20C>G | ||
| XR_943416.3:n.449+20C>G | ||
| NM_013382.6:c.248+20C>G | NP_037514.2:n.248+20C>G | |
| NM_013382.7:c.248+20C>G MANE Select | NP_037514.2:n.248+20C>G |