Linked Data
ClinVar Variation Id:
218788
ClinVar RCV Id:
RCV000202998
dbSNP Id:
rs17433672
gnomAD v2:
3-151986262-C-T
gnomAD v3:
3-152268473-C-T
gnomAD v4:
3-152268473-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.152268473C>T , CM000665.2:g.152268473C>T | GRCh38 |
| NC_000003.11:g.151986262C>T , CM000665.1:g.151986262C>T | GRCh37 |
| NC_000003.10:g.153468952C>T | NCBI36 |
| NG_047058.1:g.29153C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282486.10:c.-1409C>T (MBNL1) | ENSP00000282486.6:n.-1409C>T | |
| ENST00000282488.11:c.-1409C>T (MBNL1) | ENSP00000282488.8:n.-1409C>T | |
| ENST00000355460.6:c.-1409C>T (MBNL1) | ENSP00000347637.2:n.-1409C>T | |
| ENST00000477171.1:n.333+24033C>T (MBNL1) | ||
| NM_001314057.1:c.-795C>T (MBNL1) | NP_001300986.1:n.-795C>T | |
| NM_021038.3:c.-1409C>T (MBNL1) | NP_066368.2:n.-1409C>T | |
| NM_021038.4:c.-1409C>T (MBNL1) | NP_066368.2:n.-1409C>T | |
| NM_207292.1:c.-1409C>T (MBNL1) | NP_997175.1:n.-1409C>T | |
| NM_207292.2:c.-1409C>T (MBNL1) | NP_997175.1:n.-1409C>T | |
| NR_027037.1:n.788G>A (MBNL1-AS1) | ||
| NR_027038.1:n.799G>A (MBNL1-AS1) | ||
| XM_005247475.2:c.-103+24033C>T (MBNL1) | XP_005247532.1:n.-103+24033C>T | |
| XM_006713639.1:c.-790+24033C>T (MBNL1) | XP_006713702.1:n.-790+24033C>T | |
| XM_005247475.3:c.-103+24033C>T (MBNL1) | XP_005247532.1:n.-103+24033C>T | |
| XM_017006428.1:c.-790+24033C>T (MBNL1) | XP_016861917.1:n.-790+24033C>T | |
| NM_001376819.1:c.-790+24033C>T (MBNL1) | NP_001363748.1:n.-790+24033C>T | |
| NM_001376826.1:c.-790+24033C>T (MBNL1) | NP_001363755.1:n.-790+24033C>T | |
| NM_001376839.1:c.-103+24033C>T (MBNL1) | NP_001363768.1:n.-103+24033C>T | |
| NM_001376840.1:c.-103+24033C>T (MBNL1) | NP_001363769.1:n.-103+24033C>T | |
| NM_001376845.1:c.-103+24033C>T (MBNL1) | NP_001363774.1:n.-103+24033C>T | |
| NM_001387781.1:c.-790+24033C>T (MBNL1) | NP_001374710.1:n.-790+24033C>T | |
| NM_001387785.1:c.-790+24033C>T (MBNL1) | NP_001374714.1:n.-790+24033C>T | |
| NM_001387788.1:c.-790+24033C>T (MBNL1) | NP_001374717.1:n.-790+24033C>T | |
| NM_001387792.1:c.-790+24033C>T (MBNL1) | NP_001374721.1:n.-790+24033C>T | |
| NM_001387797.1:c.-115+24033C>T (MBNL1) | NP_001374726.1:n.-115+24033C>T | |
| NM_001387801.1:c.-790+24033C>T (MBNL1) | NP_001374730.1:n.-790+24033C>T | |
| NM_001387811.1:c.-779+24033C>T (MBNL1) | NP_001374740.1:n.-779+24033C>T | |
| NM_001387821.1:c.-4+24033C>T (MBNL1) | NP_001374750.1:n.-4+24033C>T | |
| NM_001387822.1:c.-103+24033C>T (MBNL1) | NP_001374751.1:n.-103+24033C>T | |
| NM_001387831.1:c.-103+24033C>T (MBNL1) | NP_001374760.1:n.-103+24033C>T | |
| NR_170697.1:n.421+24033C>T (MBNL1) |