Linked Data
ClinVar Variation Id:
325513
dbSNP Id:
rs148935720
ExAC:
17:7487223 C / T
gnomAD v2:
17-7487223-C-T
gnomAD v3:
17-7583905-C-T
gnomAD v4:
17-7583905-C-T
COSMIC:
COSM296500
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7583905C>T , CM000679.2:g.7583905C>T | GRCh38 |
| NC_000017.10:g.7487223C>T , CM000679.1:g.7487223C>T | GRCh37 |
| NC_000017.9:g.7427947C>T | NCBI36 |
| NG_009204.1:g.5259C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250124.11:c.43C>T (MPDU1) MANE Select | ENSP00000250124.6:p.Pro15Ser | |
| ENST00000250124.10:c.43C>T (MPDU1) | ENSP00000250124.6:p.Pro15Ser | |
| ENST00000359822.10:c.43C>T (MPDU1) | ENSP00000352876.6:p.Pro15Ser | |
| ENST00000396501.8:c.43C>T (MPDU1) | ENSP00000379758.4:p.Pro15Ser | |
| ENST00000423172.6:c.43C>T (MPDU1) | ENSP00000414071.2:p.Pro15Ser | |
| ENST00000570458.5:c.32C>T (MPDU1) | ||
| ENST00000571391.5:n.58C>T (MPDU1) | ||
| ENST00000571822.5:c.43C>T (MPDU1) | ENSP00000458741.1:p.Pro15Ser | |
| ENST00000572719.5:c.43C>T (MPDU1) | ENSP00000459498.1:p.Pro15Ser | |
| ENST00000572836.5:n.54C>T (MPDU1) | ||
| ENST00000572936.5:c.43C>T (MPDU1) | ENSP00000459306.1:p.Pro15Ser | |
| ENST00000574558.1:c.11C>T (MPDU1) | ||
| ENST00000575256.1:n.36C>T (MPDU1) | ||
| ENST00000576066.5:c.43C>T (MPDU1) | ENSP00000461183.1:p.Pro15Ser | |
| ENST00000576272.5:c.21C>T (MPDU1) | ||
| ENST00000577088.5:n.54C>T (MPDU1) | ||
| ENST00000578267.5:n.58C>T (MPDU1) | ||
| ENST00000579445.5:c.43C>T (MPDU1) | ENSP00000464158.1:p.Pro15Ser | |
| ENST00000580708.5:c.43C>T (MPDU1) | ENSP00000464524.1:p.Pro15Ser | |
| ENST00000580834.5:c.43C>T (MPDU1) | ENSP00000463056.1:p.Pro15Ser | |
| ENST00000581380.1:c.13C>T (MPDU1) | ENSP00000463966.1:p.Pro5Ser | |
| ENST00000581886.5:n.41C>T (MPDU1) | ||
| ENST00000582151.1:c.43C>T (MPDU1) | ENSP00000462500.1:p.Pro15Ser | |
| ENST00000584378.5:c.43C>T (MPDU1) | ENSP00000462839.1:p.Pro15Ser | |
| ENST00000584479.5:c.43C>T (MPDU1) | ENSP00000462229.1:p.Pro15Ser | |
| ENST00000585188.5:n.58C>T (MPDU1) | ||
| ENST00000585217.5:c.31C>T (MPDU1) | ENSP00000463037.1:p.Pro11Ser | |
| ENST00000614740.4:c.43C>T (MPDU1) | ENSP00000483943.1:p.Pro15Ser | |
| ENST00000620608.4:c.43C>T (MPDU1) | ENSP00000483915.1:p.Pro15Ser | |
| ENST00000621041.4:c.43C>T (MPDU1) | ENSP00000479257.1:p.Pro15Ser | |
| NM_004870.3:c.43C>T (MPDU1) | NP_004861.2:p.Pro15Ser | |
| NR_024603.1:n.259C>T (MPDU1) | ||
| XM_006721597.1:c.43C>T (MPDU1) | XP_006721660.1:p.Pro15Ser | |
| XM_006721598.1:c.43C>T (MPDU1) | XP_006721661.1:p.Pro15Ser | |
| XM_006721599.1:c.43C>T (MPDU1) | XP_006721662.1:p.Pro15Ser | |
| XM_011524081.1:c.-321C>T (MPDU1) | XP_011522383.1:n.-321C>T | |
| XR_934193.1:n.867+13G>A (MPDU1-AS1) | ||
| NM_001330073.1:c.43C>T (MPDU1) | NP_001317002.1:p.Pro15Ser | |
| NR_136401.1:n.162+13G>A (MPDU1-AS1) | ||
| NR_136402.1:n.162+13G>A (MPDU1-AS1) | ||
| XM_006721597.2:c.43C>T (MPDU1) | XP_006721660.1:p.Pro15Ser | |
| XM_006721598.3:c.43C>T (MPDU1) | XP_006721661.1:p.Pro15Ser | |
| XM_011524081.2:c.-321C>T (MPDU1) | XP_011522383.1:n.-321C>T | |
| XM_024451040.1:c.-316C>T (MPDU1) | XP_024306808.1:n.-316C>T | |
| NM_004870.4:c.43C>T (MPDU1) MANE Select | NP_004861.2:p.Pro15Ser | |
| NR_136401.2:n.175+13G>A (MPDU1-AS1) | ||
| NR_136402.2:n.175+13G>A (MPDU1-AS1) |