Linked Data
ClinVar Variation Id:
325512
dbSNP Id:
rs370389790
ExAC:
17:7487145 C / T
gnomAD v2:
17-7487145-C-T
gnomAD v3:
17-7583827-C-T
gnomAD v4:
17-7583827-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7583827C>T , CM000679.2:g.7583827C>T | GRCh38 |
| NC_000017.10:g.7487145C>T , CM000679.1:g.7487145C>T | GRCh37 |
| NC_000017.9:g.7427869C>T | NCBI36 |
| NG_009204.1:g.5181C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000250124.10:c.-36C>T (MPDU1) | ENSP00000250124.6:n.-36C>T | |
| ENST00000571822.5:c.-36C>T (MPDU1) | ENSP00000458741.1:n.-36C>T | |
| ENST00000572936.5:c.-36C>T (MPDU1) | ENSP00000459306.1:n.-36C>T | |
| ENST00000582151.1:c.-36C>T (MPDU1) | ENSP00000462500.1:n.-36C>T | |
| ENST00000620608.4:c.-36C>T (MPDU1) | ENSP00000483915.1:n.-36C>T | |
| ENST00000621041.4:c.-36C>T (MPDU1) | ENSP00000479257.1:n.-36C>T | |
| NM_004870.3:c.-36C>T (MPDU1) | NP_004861.2:n.-36C>T | |
| NR_024603.1:n.181C>T (MPDU1) | ||
| XR_934193.1:n.867+91G>A (MPDU1-AS1) | ||
| NM_001330073.1:c.-36C>T (MPDU1) | NP_001317002.1:n.-36C>T | |
| NR_136401.1:n.162+91G>A (MPDU1-AS1) | ||
| NR_136402.1:n.162+91G>A (MPDU1-AS1) | ||
| XM_024451040.1:c.-394C>T (MPDU1) | XP_024306808.1:n.-394C>T | |
| NR_136401.2:n.175+91G>A (MPDU1-AS1) | ||
| NR_136402.2:n.175+91G>A (MPDU1-AS1) |