Linked Data
ClinVar Variation Id:
325516
dbSNP Id:
rs142551371
ExAC:
17:7490239 C / T
gnomAD v2:
17-7490239-C-T
gnomAD v3:
17-7586921-C-T
gnomAD v4:
17-7586921-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7586921C>T , CM000679.2:g.7586921C>T | GRCh38 |
| NC_000017.10:g.7490239C>T , CM000679.1:g.7490239C>T | GRCh37 |
| NC_000017.9:g.7430963C>T | NCBI36 |
| NG_009204.1:g.8275C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250124.11:c.411C>T MANE Select | ENSP00000250124.6:p.Tyr137= | |
| ENST00000250124.10:c.411C>T | ENSP00000250124.6:p.Tyr137= | |
| ENST00000359822.10:c.*258+83C>T | ENSP00000352876.6:n.*258+83C>T | |
| ENST00000396501.8:c.449+83C>T | ENSP00000379758.4:n.449+83C>T | |
| ENST00000423172.6:c.325C>T | ENSP00000414071.2:p.Arg109Trp | |
| ENST00000570458.5:c.267C>T | ||
| ENST00000571822.5:c.*220C>T | ENSP00000458741.1:n.*220C>T | |
| ENST00000571877.1:n.453C>T | ||
| ENST00000572719.5:c.*117C>T | ENSP00000459498.1:n.*117C>T | |
| ENST00000572836.5:n.422C>T | ||
| ENST00000572936.5:c.*256C>T | ENSP00000459306.1:n.*256C>T | |
| ENST00000574558.1:c.180C>T | ||
| ENST00000576066.5:c.*220C>T | ENSP00000461183.1:n.*220C>T | |
| ENST00000576272.5:c.384C>T | ||
| ENST00000577088.5:n.543C>T | ||
| ENST00000578267.5:n.542C>T | ||
| ENST00000579445.5:c.411C>T | ENSP00000464158.1:p.Tyr137= | |
| ENST00000580834.5:c.*117C>T | ENSP00000463056.1:n.*117C>T | |
| ENST00000581380.1:c.358+144C>T | ENSP00000463966.1:n.358+144C>T | |
| ENST00000581886.5:n.404C>T | ||
| ENST00000584378.5:c.303-240C>T | ENSP00000462839.1:n.303-240C>T | |
| ENST00000584479.5:c.*117C>T | ENSP00000462229.1:n.*117C>T | |
| ENST00000585188.5:n.583C>T | ||
| ENST00000585217.5:c.345+175C>T | ENSP00000463037.1:n.345+175C>T | |
| ENST00000614740.4:c.411C>T | ENSP00000483943.1:p.Tyr137= | |
| ENST00000620608.4:c.411C>T | ENSP00000483915.1:p.Tyr137= | |
| ENST00000621041.4:c.411C>T | ENSP00000479257.1:p.Tyr137= | |
| NM_004870.3:c.411C>T | NP_004861.2:p.Tyr137= | |
| NR_024603.1:n.622C>T | ||
| XM_006721597.1:c.388+144C>T | XP_006721660.1:n.388+144C>T | |
| XM_006721598.1:c.411C>T | XP_006721661.1:p.Tyr137= | |
| XM_006721599.1:c.449+83C>T | XP_006721662.1:n.449+83C>T | |
| XM_011524081.1:c.84C>T | XP_011522383.1:p.Tyr28= | |
| NM_001330073.1:c.449+83C>T | NP_001317002.1:n.449+83C>T | |
| XM_006721597.2:c.388+144C>T | XP_006721660.1:n.388+144C>T | |
| XM_006721598.3:c.411C>T | XP_006721661.1:p.Tyr137= | |
| XM_011524081.2:c.84C>T | XP_011522383.1:p.Tyr28= | |
| XM_024451040.1:c.84C>T | XP_024306808.1:p.Tyr28= | |
| NM_004870.4:c.411C>T MANE Select | NP_004861.2:p.Tyr137= |