Linked Data
ClinVar Variation Id:
387361
dbSNP Id:
rs11078699
ExAC:
17:7490603 C / T
gnomAD v2:
17-7490603-C-T
gnomAD v3:
17-7587285-C-T
gnomAD v4:
17-7587285-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7587285C>T , CM000679.2:g.7587285C>T | GRCh38 |
| NC_000017.10:g.7490603C>T , CM000679.1:g.7490603C>T | GRCh37 |
| NC_000017.9:g.7431327C>T | NCBI36 |
| NG_009204.1:g.8639C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250124.11:c.618+14C>T MANE Select | ENSP00000250124.6:n.618+14C>T | |
| ENST00000250124.10:c.618+14C>T | ENSP00000250124.6:n.618+14C>T | |
| ENST00000359822.10:c.*369+14C>T | ENSP00000352876.6:n.*369+14C>T | |
| ENST00000396501.8:c.560+14C>T | ENSP00000379758.4:n.560+14C>T | |
| ENST00000423172.6:c.532+14C>T | ENSP00000414071.2:n.532+14C>T | |
| ENST00000570458.5:c.474+14C>T | ||
| ENST00000571822.5:c.*427+14C>T | ENSP00000458741.1:n.*427+14C>T | |
| ENST00000571877.1:n.803+14C>T | ||
| ENST00000572719.5:c.*324+14C>T | ENSP00000459498.1:n.*324+14C>T | |
| ENST00000572836.5:n.772+14C>T | ||
| ENST00000572936.5:c.*463+14C>T | ENSP00000459306.1:n.*463+14C>T | |
| ENST00000574558.1:c.387+14C>T | ||
| ENST00000576272.5:c.591+14C>T | ||
| ENST00000577088.5:n.893+14C>T | ||
| ENST00000580834.5:c.*324+14C>T | ENSP00000463056.1:n.*324+14C>T | |
| ENST00000581886.5:n.754+14C>T | ||
| ENST00000584378.5:c.413+14C>T | ENSP00000462839.1:n.413+14C>T | |
| ENST00000585217.5:c.345+539C>T | ENSP00000463037.1:n.345+539C>T | |
| ENST00000614740.4:c.616+14C>T | ENSP00000483943.1:n.616+14C>T | |
| ENST00000620608.4:c.617+14C>T | ENSP00000483915.1:n.617+14C>T | |
| ENST00000621041.4:c.616+14C>T | ENSP00000479257.1:n.616+14C>T | |
| NM_004870.3:c.618+14C>T | NP_004861.2:n.618+14C>T | |
| NR_024603.1:n.829+14C>T | ||
| XM_006721597.1:c.499+14C>T | XP_006721660.1:n.499+14C>T | |
| XM_006721598.1:c.761+14C>T | XP_006721661.1:n.761+14C>T | |
| XM_006721599.1:c.560+14C>T | XP_006721662.1:n.560+14C>T | |
| XM_011524081.1:c.291+14C>T | XP_011522383.1:n.291+14C>T | |
| NM_001330073.1:c.560+14C>T | NP_001317002.1:n.560+14C>T | |
| XM_006721597.2:c.499+14C>T | XP_006721660.1:n.499+14C>T | |
| XM_006721598.3:c.761+14C>T | XP_006721661.1:n.761+14C>T | |
| XM_011524081.2:c.291+14C>T | XP_011522383.1:n.291+14C>T | |
| XM_024451040.1:c.291+14C>T | XP_024306808.1:n.291+14C>T | |
| NM_004870.4:c.618+14C>T MANE Select | NP_004861.2:n.618+14C>T |