Linked Data
ClinVar Variation Id:
5869
ClinVar RCV Id:
RCV000006227
dbSNP Id:
rs104894588
ExAC:
17:7487182 T / C
gnomAD v2:
17-7487182-T-C
gnomAD v3:
17-7583864-T-C
gnomAD v4:
17-7583864-T-C
PubMed:
PMID:11733564
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7583864T>C , CM000679.2:g.7583864T>C | GRCh38 |
| NC_000017.10:g.7487182T>C , CM000679.1:g.7487182T>C | GRCh37 |
| NC_000017.9:g.7427906T>C | NCBI36 |
| NG_009204.1:g.5218T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250124.11:c.2T>C (MPDU1) MANE Select | ENSP00000250124.6:p.Met1Thr | |
| ENST00000250124.10:c.2T>C (MPDU1) | ENSP00000250124.6:p.Met1Thr | |
| ENST00000359822.10:c.2T>C (MPDU1) | ENSP00000352876.6:p.Met1Thr | |
| ENST00000396501.8:c.2T>C (MPDU1) | ENSP00000379758.4:p.Met1Thr | |
| ENST00000423172.6:c.2T>C (MPDU1) | ENSP00000414071.2:p.Met1Thr | |
| ENST00000571391.5:n.17T>C (MPDU1) | ||
| ENST00000571822.5:c.2T>C (MPDU1) | ENSP00000458741.1:p.Met1Thr | |
| ENST00000572719.5:c.2T>C (MPDU1) | ENSP00000459498.1:p.Met1Thr | |
| ENST00000572836.5:n.13T>C (MPDU1) | ||
| ENST00000572936.5:c.2T>C (MPDU1) | ENSP00000459306.1:p.Met1Thr | |
| ENST00000576066.5:c.2T>C (MPDU1) | ENSP00000461183.1:p.Met1Thr | |
| ENST00000577088.5:n.13T>C (MPDU1) | ||
| ENST00000578267.5:n.17T>C (MPDU1) | ||
| ENST00000579445.5:c.2T>C (MPDU1) | ENSP00000464158.1:p.Met1Thr | |
| ENST00000580708.5:c.2T>C (MPDU1) | ENSP00000464524.1:p.Met1Thr | |
| ENST00000580834.5:c.2T>C (MPDU1) | ENSP00000463056.1:p.Met1Thr | |
| ENST00000582151.1:c.2T>C (MPDU1) | ENSP00000462500.1:p.Met1Thr | |
| ENST00000584378.5:c.2T>C (MPDU1) | ENSP00000462839.1:p.Met1Thr | |
| ENST00000584479.5:c.2T>C (MPDU1) | ENSP00000462229.1:p.Met1Thr | |
| ENST00000585188.5:n.17T>C (MPDU1) | ||
| ENST00000614740.4:c.2T>C (MPDU1) | ENSP00000483943.1:p.Met1Thr | |
| ENST00000620608.4:c.2T>C (MPDU1) | ENSP00000483915.1:p.Met1Thr | |
| ENST00000621041.4:c.2T>C (MPDU1) | ENSP00000479257.1:p.Met1Thr | |
| NM_004870.3:c.2T>C (MPDU1) | NP_004861.2:p.Met1Thr | |
| NR_024603.1:n.218T>C (MPDU1) | ||
| XM_006721597.1:c.2T>C (MPDU1) | XP_006721660.1:p.Met1Thr | |
| XM_006721598.1:c.2T>C (MPDU1) | XP_006721661.1:p.Met1Thr | |
| XM_006721599.1:c.2T>C (MPDU1) | XP_006721662.1:p.Met1Thr | |
| XM_011524081.1:c.-362T>C (MPDU1) | XP_011522383.1:n.-362T>C | |
| XR_934193.1:n.867+54A>G (MPDU1-AS1) | ||
| NM_001330073.1:c.2T>C (MPDU1) | NP_001317002.1:p.Met1Thr | |
| NR_136401.1:n.162+54A>G (MPDU1-AS1) | ||
| NR_136402.1:n.162+54A>G (MPDU1-AS1) | ||
| XM_006721597.2:c.2T>C (MPDU1) | XP_006721660.1:p.Met1Thr | |
| XM_006721598.3:c.2T>C (MPDU1) | XP_006721661.1:p.Met1Thr | |
| XM_011524081.2:c.-362T>C (MPDU1) | XP_011522383.1:n.-362T>C | |
| XM_024451040.1:c.-357T>C (MPDU1) | XP_024306808.1:n.-357T>C | |
| NM_004870.4:c.2T>C (MPDU1) MANE Select | NP_004861.2:p.Met1Thr | |
| NR_136401.2:n.175+54A>G (MPDU1-AS1) | ||
| NR_136402.2:n.175+54A>G (MPDU1-AS1) |