Linked Data
ClinVar Variation Id:
5871
ClinVar RCV Id:
RCV000006229
dbSNP Id:
rs104894589
ExAC:
17:7489315 T / C
gnomAD v2:
17-7489315-T-C
gnomAD v4:
17-7585997-T-C
PubMed:
PMID:11733556
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7585997T>C , CM000679.2:g.7585997T>C | GRCh38 |
| NC_000017.10:g.7489315T>C , CM000679.1:g.7489315T>C | GRCh37 |
| NC_000017.9:g.7430039T>C | NCBI36 |
| NG_009204.1:g.7351T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250124.11:c.221T>C MANE Select | ENSP00000250124.6:p.Leu74Ser | |
| ENST00000250124.10:c.221T>C | ENSP00000250124.6:p.Leu74Ser | |
| ENST00000359822.10:c.*30T>C | ENSP00000352876.6:n.*30T>C | |
| ENST00000396501.8:c.221T>C | ENSP00000379758.4:p.Leu74Ser | |
| ENST00000423172.6:c.221T>C | ENSP00000414071.2:p.Leu74Ser | |
| ENST00000570458.5:c.158+200T>C | ||
| ENST00000571391.5:n.236T>C | ||
| ENST00000571822.5:c.*30T>C | ENSP00000458741.1:n.*30T>C | |
| ENST00000572719.5:c.221T>C | ENSP00000459498.1:p.Leu74Ser | |
| ENST00000572836.5:n.232T>C | ||
| ENST00000572936.5:c.*30T>C | ENSP00000459306.1:n.*30T>C | |
| ENST00000574558.1:c.72-695T>C | ||
| ENST00000575256.1:n.209T>C | ||
| ENST00000576066.5:c.*30T>C | ENSP00000461183.1:n.*30T>C | |
| ENST00000576272.5:c.194T>C | ||
| ENST00000577088.5:n.232T>C | ||
| ENST00000578267.5:n.231T>C | ||
| ENST00000579445.5:c.221T>C | ENSP00000464158.1:p.Leu74Ser | |
| ENST00000580708.5:c.221T>C | ENSP00000464524.1:p.Leu74Ser | |
| ENST00000580834.5:c.221T>C | ENSP00000463056.1:p.Leu74Ser | |
| ENST00000581380.1:c.191T>C | ENSP00000463966.1:p.Leu64Ser | |
| ENST00000581886.5:n.214T>C | ||
| ENST00000584378.5:c.221T>C | ENSP00000462839.1:p.Leu74Ser | |
| ENST00000584479.5:c.221T>C | ENSP00000462229.1:p.Leu74Ser | |
| ENST00000585188.5:n.236T>C | ||
| ENST00000585217.5:c.209T>C | ENSP00000463037.1:p.Leu70Ser | |
| ENST00000614740.4:c.221T>C | ENSP00000483943.1:p.Leu74Ser | |
| ENST00000620608.4:c.221T>C | ENSP00000483915.1:p.Leu74Ser | |
| ENST00000621041.4:c.221T>C | ENSP00000479257.1:p.Leu74Ser | |
| NM_004870.3:c.221T>C | NP_004861.2:p.Leu74Ser | |
| NR_024603.1:n.432T>C | ||
| XM_006721597.1:c.221T>C | XP_006721660.1:p.Leu74Ser | |
| XM_006721598.1:c.221T>C | XP_006721661.1:p.Leu74Ser | |
| XM_006721599.1:c.221T>C | XP_006721662.1:p.Leu74Ser | |
| XM_011524081.1:c.-143T>C | XP_011522383.1:n.-143T>C | |
| NM_001330073.1:c.221T>C | NP_001317002.1:p.Leu74Ser | |
| XM_006721597.2:c.221T>C | XP_006721660.1:p.Leu74Ser | |
| XM_006721598.3:c.221T>C | XP_006721661.1:p.Leu74Ser | |
| XM_011524081.2:c.-143T>C | XP_011522383.1:n.-143T>C | |
| XM_024451040.1:c.-143T>C | XP_024306808.1:n.-143T>C | |
| NM_004870.4:c.221T>C MANE Select | NP_004861.2:p.Leu74Ser |