Linked Data
ClinVar Variation Id:
771551
ClinVar RCV Id:
RCV000950884
dbSNP Id:
rs72614187
ExAC:
X:131525119 C / T
gnomAD v2:
X-131525119-C-T
gnomAD v3:
X-132391091-C-T
gnomAD v4:
X-132391091-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.132391091C>T , CM000685.2:g.132391091C>T | GRCh38 |
| NC_000023.10:g.131525119C>T , CM000685.1:g.131525119C>T | GRCh37 |
| NC_000023.9:g.131352800C>T | NCBI36 |
| NG_016324.1:g.103878G>A | |
| NG_016324.2:g.103878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394311.7:c.247-8G>A (MBNL3) | ENSP00000377848.2:n.247-8G>A | |
| ENST00000442191.6:c.409-8G>A (MBNL3) | ENSP00000412065.2:n.409-8G>A | |
| ENST00000473364.2:c.409-8G>A (MBNL3) | ENSP00000513826.1:n.409-8G>A | |
| ENST00000538204.6:c.385-8G>A (MBNL3) | ENSP00000439618.1:n.385-8G>A | |
| ENST00000698663.1:c.409-8G>A (MBNL3) | ENSP00000513865.1:n.409-8G>A | |
| ENST00000698664.1:c.535-8G>A (MBNL3) | ENSP00000513866.1:n.535-8G>A | |
| ENST00000370853.8:c.535-8G>A (MBNL3) MANE Select | ENSP00000359890.3:n.535-8G>A | |
| ENST00000370839.7:c.535-8G>A (MBNL3) | ENSP00000359876.3:n.535-8G>A | |
| ENST00000370844.5:c.247-8G>A (MBNL3) | ENSP00000359881.1:n.247-8G>A | |
| ENST00000370849.7:c.385-8G>A (MBNL3) | ENSP00000359886.3:n.385-8G>A | |
| ENST00000370853.7:c.535-8G>A (MBNL3) | ENSP00000359890.3:n.535-8G>A | |
| ENST00000370857.7:c.535-8G>A (MBNL3) | ENSP00000359894.3:n.535-8G>A | |
| ENST00000394311.6:c.247-8G>A (MBNL3) | ENSP00000377848.2:n.247-8G>A | |
| ENST00000421707.1:c.247-8G>A (MBNL3) | ENSP00000402128.1:n.247-8G>A | |
| ENST00000436215.5:c.247-8G>A (MBNL3) | ENSP00000406014.1:n.247-8G>A | |
| ENST00000473364.1:n.551-8G>A (MBNL3) | ||
| ENST00000538204.5:c.385-8G>A (MBNL3) | ENSP00000439618.1:n.385-8G>A | |
| NM_001170701.1:c.385-8G>A (MBNL3) | NP_001164172.1:n.385-8G>A | |
| NM_001170702.1:c.385-8G>A (MBNL3) | NP_001164173.1:n.385-8G>A | |
| NM_001170703.1:c.247-8G>A (MBNL3) | NP_001164174.1:n.247-8G>A | |
| NM_001170704.1:c.247-8G>A (MBNL3) | NP_001164175.1:n.247-8G>A | |
| NM_018388.3:c.535-8G>A (MBNL3) | NP_060858.2:n.535-8G>A | |
| NM_133486.2:c.535-8G>A (MBNL3) | NP_597846.1:n.535-8G>A | |
| NR_110410.1:n.424-38722C>T (RAP2C-AS1) | ||
| XM_005262431.2:c.535-8G>A (MBNL3) | XP_005262488.1:n.535-8G>A | |
| XM_005262432.1:c.535-8G>A (MBNL3) | XP_005262489.1:n.535-8G>A | |
| XM_005262433.1:c.535-8G>A (MBNL3) | XP_005262490.1:n.535-8G>A | |
| XM_005262434.2:c.535-8G>A (MBNL3) | XP_005262491.1:n.535-8G>A | |
| XM_005262435.1:c.535-8G>A (MBNL3) | XP_005262492.1:n.535-8G>A | |
| XM_005262436.2:c.409-8G>A (MBNL3) | XP_005262493.1:n.409-8G>A | |
| XM_005262437.2:c.385-8G>A (MBNL3) | XP_005262494.1:n.385-8G>A | |
| XM_005262438.2:c.385-8G>A (MBNL3) | XP_005262495.1:n.385-8G>A | |
| XM_005262439.2:c.247-8G>A (MBNL3) | XP_005262496.1:n.247-8G>A | |
| XM_005262440.2:c.247-8G>A (MBNL3) | XP_005262497.1:n.247-8G>A | |
| XM_005262441.2:c.247-8G>A (MBNL3) | XP_005262498.1:n.247-8G>A | |
| XM_005262442.2:c.247-8G>A (MBNL3) | XP_005262499.1:n.247-8G>A | |
| XM_006724766.2:c.535-8G>A (MBNL3) | XP_006724829.1:n.535-8G>A | |
| XM_011531363.1:c.535-8G>A (MBNL3) | XP_011529665.1:n.535-8G>A | |
| XM_011531364.1:c.181-8G>A (MBNL3) | XP_011529666.1:n.181-8G>A | |
| XM_005262431.3:c.535-8G>A (MBNL3) | XP_005262488.1:n.535-8G>A | |
| XM_005262434.3:c.535-8G>A (MBNL3) | XP_005262491.1:n.535-8G>A | |
| XM_005262436.4:c.409-8G>A (MBNL3) | XP_005262493.1:n.409-8G>A | |
| XM_005262437.3:c.385-8G>A (MBNL3) | XP_005262494.1:n.385-8G>A | |
| XM_005262438.3:c.385-8G>A (MBNL3) | XP_005262495.1:n.385-8G>A | |
| XM_005262439.3:c.247-8G>A (MBNL3) | XP_005262496.1:n.247-8G>A | |
| XM_005262440.3:c.247-8G>A (MBNL3) | XP_005262497.1:n.247-8G>A | |
| XM_005262441.3:c.247-8G>A (MBNL3) | XP_005262498.1:n.247-8G>A | |
| XM_005262442.3:c.247-8G>A (MBNL3) | XP_005262499.1:n.247-8G>A | |
| XM_011531364.2:c.181-8G>A (MBNL3) | XP_011529666.1:n.181-8G>A | |
| XM_017029633.1:c.535-8G>A (MBNL3) | XP_016885122.1:n.535-8G>A | |
| XM_017029636.1:c.535-8G>A (MBNL3) | XP_016885125.1:n.535-8G>A | |
| XM_017029638.1:c.247-8G>A (MBNL3) | XP_016885127.1:n.247-8G>A | |
| XM_017029639.1:c.247-8G>A (MBNL3) | XP_016885128.1:n.247-8G>A | |
| XM_024452401.1:c.535-8G>A (MBNL3) | XP_024308169.1:n.535-8G>A | |
| XM_024452402.1:c.535-8G>A (MBNL3) | XP_024308170.1:n.535-8G>A | |
| XM_024452403.1:c.409-8G>A (MBNL3) | XP_024308171.1:n.409-8G>A | |
| XM_024452404.1:c.247-8G>A (MBNL3) | XP_024308172.1:n.247-8G>A | |
| NM_001170701.2:c.385-8G>A (MBNL3) | NP_001164172.1:n.385-8G>A | |
| NM_001170704.2:c.247-8G>A (MBNL3) | NP_001164175.1:n.247-8G>A | |
| NM_001170701.3:c.247-8G>A (MBNL3) | NP_001164172.2:n.247-8G>A | |
| NM_001170702.3:c.247-8G>A (MBNL3) | NP_001164173.2:n.247-8G>A | |
| NM_001170703.2:c.247-8G>A (MBNL3) | NP_001164174.1:n.247-8G>A | |
| NM_001386889.1:c.535-8G>A (MBNL3) MANE Select | NP_001373818.1:n.535-8G>A | |
| NM_001386891.1:c.535-8G>A (MBNL3) | NP_001373820.1:n.535-8G>A | |
| NM_001386892.1:c.535-8G>A (MBNL3) | NP_001373821.1:n.535-8G>A | |
| NM_001386894.1:c.535-8G>A (MBNL3) | NP_001373823.1:n.535-8G>A | |
| NM_001386896.1:c.535-8G>A (MBNL3) | NP_001373825.1:n.535-8G>A | |
| NM_001386897.1:c.535-8G>A (MBNL3) | NP_001373826.1:n.535-8G>A | |
| NM_001386898.1:c.535-8G>A (MBNL3) | NP_001373827.1:n.535-8G>A | |
| NM_001386899.1:c.535-8G>A (MBNL3) | NP_001373828.1:n.535-8G>A | |
| NM_001386900.1:c.247-8G>A (MBNL3) | NP_001373829.1:n.247-8G>A | |
| NM_001386901.1:c.247-8G>A (MBNL3) | NP_001373830.1:n.247-8G>A | |
| NM_001386902.1:c.247-8G>A (MBNL3) | NP_001373831.1:n.247-8G>A | |
| NM_001386907.1:c.247-8G>A (MBNL3) | NP_001373836.1:n.247-8G>A | |
| NM_001386909.1:c.247-8G>A (MBNL3) | NP_001373838.1:n.247-8G>A | |
| NM_001386910.1:c.247-8G>A (MBNL3) | NP_001373839.1:n.247-8G>A | |
| NM_001386911.1:c.247-8G>A (MBNL3) | NP_001373840.1:n.247-8G>A | |
| NM_001386912.1:c.247-8G>A (MBNL3) | NP_001373841.1:n.247-8G>A | |
| NM_001386913.1:c.247-8G>A (MBNL3) | NP_001373842.1:n.247-8G>A | |
| NM_001386914.1:c.247-8G>A (MBNL3) | NP_001373843.1:n.247-8G>A | |
| NM_001386915.1:c.247-8G>A (MBNL3) | NP_001373844.1:n.247-8G>A | |
| NM_001386916.1:c.181-8G>A (MBNL3) | NP_001373845.1:n.181-8G>A | |
| NM_001386917.1:c.247-8G>A (MBNL3) | NP_001373846.1:n.247-8G>A | |
| NM_001386918.1:c.246+1052G>A (MBNL3) | NP_001373847.1:n.246+1052G>A | |
| NM_018388.4:c.535-8G>A (MBNL3) | NP_060858.2:n.535-8G>A | |
| NM_133486.4:c.535-8G>A (MBNL3) | NP_597846.1:n.535-8G>A |