Linked Data
ClinVar Variation Id:
289479
dbSNP Id:
rs201921627
gnomAD v2:
14-77757730-G-C
gnomAD v4:
14-77291387-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.77291387G>C , CM000676.2:g.77291387G>C | GRCh38 |
| NC_000014.8:g.77757730G>C , CM000676.1:g.77757730G>C | GRCh37 |
| NC_000014.7:g.76827483G>C | NCBI36 |
| NG_008897.1:g.34496C>G , LRG_844:g.34496C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000556394.2:c.658-7C>G | ENSP00000451967.2:n.658-7C>G | |
| ENST00000682247.1:c.1117-7C>G | ENSP00000507213.1:n.1117-7C>G | |
| ENST00000682382.1:c.689-7C>G | ||
| ENST00000682395.1:n.846-7C>G | ||
| ENST00000682459.1:n.781-7C>G | ||
| ENST00000682467.1:c.1117-7C>G | ENSP00000508062.1:n.1117-7C>G | |
| ENST00000682795.1:c.1117-7C>G | ENSP00000507574.1:n.1117-7C>G | |
| ENST00000682895.1:n.833-7C>G | ||
| ENST00000682955.1:n.405-7C>G | ||
| ENST00000683188.1:c.643-7C>G | ||
| ENST00000683285.1:c.262-7C>G | ||
| ENST00000683328.1:c.110-7C>G | ENSP00000508096.1:n.110-7C>G | |
| ENST00000683380.1:n.781-7C>G | ||
| ENST00000683828.1:c.826-7C>G | ||
| ENST00000684259.1:n.968-7C>G | ||
| ENST00000684528.1:c.632-7C>G | ||
| ENST00000684549.1:n.668-7C>G | ||
| ENST00000261534.9:c.1117-7C>G MANE Select | ENSP00000261534.4:n.1117-7C>G | |
| ENST00000261534.8:c.1117-7C>G | ENSP00000261534.4:n.1117-7C>G | |
| ENST00000452340.7:n.1140-7C>G | ||
| ENST00000554767.5:n.1903-7C>G | ||
| ENST00000556851.1:n.107C>G | ||
| ENST00000557675.5:n.207-7C>G | ||
| NM_013382.5:c.1117-7C>G , LRG_844t1:c.1117-7C>G | NP_037514.2:n.1117-7C>G | |
| XM_011536675.1:c.1117-7C>G | XP_011534977.1:n.1117-7C>G | |
| XM_011536676.1:c.784-7C>G | XP_011534978.1:n.784-7C>G | |
| XM_011536677.1:c.658-7C>G | XP_011534979.1:n.658-7C>G | |
| XM_011536678.1:c.1117-7C>G | XP_011534980.1:n.1117-7C>G | |
| XM_011536679.1:c.211-7C>G | XP_011534981.1:n.211-7C>G | |
| XM_011536680.1:c.1117-7C>G | XP_011534982.1:n.1117-7C>G | |
| XR_943416.1:n.1320-7C>G | ||
| XM_011536675.2:c.1117-7C>G | XP_011534977.1:n.1117-7C>G | |
| XM_011536676.2:c.784-7C>G | XP_011534978.1:n.784-7C>G | |
| XM_011536677.3:c.658-7C>G | XP_011534979.1:n.658-7C>G | |
| XR_001750279.1:n.1317-7C>G | ||
| XR_001750282.1:n.1321-7C>G | ||
| XR_943416.3:n.1318-7C>G | ||
| NM_013382.6:c.1117-7C>G | NP_037514.2:n.1117-7C>G | |
| NM_013382.7:c.1117-7C>G MANE Select | NP_037514.2:n.1117-7C>G |