Linked Data
dbSNP Id:
rs9513675
gnomAD v2:
13-100493160-G-A
gnomAD v3:
13-99840906-G-A
gnomAD v4:
13-99840906-G-A
Allelic Epigenome:
Alellic Epigenome (raw data)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.99840906G>A , CM000675.2:g.99840906G>A | GRCh38 |
| NC_000013.10:g.100493160G>A , CM000675.1:g.100493160G>A | GRCh37 |
| NC_000013.9:g.99291161G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000339105.9:c.250-17955G>A (CLYBL) MANE Select | ENSP00000342991.4:n.250-17955G>A | |
| ENST00000689673.1:c.250-17955G>A (CLYBL) | ENSP00000509937.1:n.250-17955G>A | |
| ENST00000693071.1:c.250-17955G>A (CLYBL) | ENSP00000508871.1:n.250-17955G>A | |
| ENST00000339105.8:c.250-17955G>A (CLYBL) | ENSP00000342991.4:n.250-17955G>A | |
| ENST00000376354.5:c.250-17955G>A (CLYBL) | ENSP00000365532.1:n.250-17955G>A | |
| ENST00000376355.7:c.250-17955G>A (CLYBL) | ENSP00000365533.4:n.250-17955G>A | |
| NM_206808.3:c.250-17955G>A (CLYBL) | NP_996531.1:n.250-17955G>A | |
| NR_104592.1:n.282-17955G>A (CLYBL) | ||
| NR_120421.1:n.84-65558C>T (CLYBL-AS3) | ||
| XM_005254030.1:c.250-17955G>A (CLYBL) | XP_005254087.1:n.250-17955G>A | |
| XM_005254031.1:c.250-17955G>A (CLYBL) | XP_005254088.1:n.250-17955G>A | |
| XM_006719915.2:c.250-17955G>A (CLYBL) | XP_006719978.1:n.250-17955G>A | |
| XM_011521051.1:c.250-17955G>A (CLYBL) | XP_011519353.1:n.250-17955G>A | |
| XM_011521052.1:c.250-17955G>A (CLYBL) | XP_011519354.1:n.250-17955G>A | |
| XR_931611.1:n.278-17955G>A (CLYBL) | ||
| XM_005254030.2:c.250-17955G>A (CLYBL) | XP_005254087.1:n.250-17955G>A | |
| XM_005254031.2:c.250-17955G>A (CLYBL) | XP_005254088.1:n.250-17955G>A | |
| XM_006719915.3:c.250-17955G>A (CLYBL) | XP_006719978.1:n.250-17955G>A | |
| XM_011521051.2:c.250-17955G>A (CLYBL) | XP_011519353.1:n.250-17955G>A | |
| XM_011521052.2:c.250-17955G>A (CLYBL) | XP_011519354.1:n.250-17955G>A | |
| XM_017020402.1:c.250-17955G>A (CLYBL) | XP_016875891.1:n.250-17955G>A | |
| XM_017020403.1:c.-150-17955G>A (CLYBL) | XP_016875892.1:n.-150-17955G>A | |
| XM_017020404.1:c.-150-17955G>A (CLYBL) | XP_016875893.1:n.-150-17955G>A | |
| XM_024449329.1:c.-150-17955G>A (CLYBL) | XP_024305097.1:n.-150-17955G>A | |
| XM_024449330.1:c.-150-17955G>A (CLYBL) | XP_024305098.1:n.-150-17955G>A | |
| XR_001749485.1:n.261-17955G>A (CLYBL) | ||
| XR_931611.2:n.261-17955G>A (CLYBL) | ||
| NR_104592.2:n.256-17955G>A (CLYBL) | ||
| NM_001393355.1:c.250-17955G>A (CLYBL) | NP_001380284.1:n.250-17955G>A | |
| NM_001393356.1:c.250-17955G>A (CLYBL) | NP_001380285.1:n.250-17955G>A | |
| NM_001393357.1:c.250-17955G>A (CLYBL) | NP_001380286.1:n.250-17955G>A | |
| NM_001393358.1:c.250-17955G>A (CLYBL) | NP_001380287.1:n.250-17955G>A | |
| NM_001393359.2:c.250-17955G>A (CLYBL) | NP_001380288.1:n.250-17955G>A | |
| NM_001393360.1:c.250-17955G>A (CLYBL) | NP_001380289.1:n.250-17955G>A | |
| NM_001393361.1:c.250-17955G>A (CLYBL) | NP_001380290.1:n.250-17955G>A | |
| NM_001393362.1:c.250-17955G>A (CLYBL) | NP_001380291.1:n.250-17955G>A | |
| NM_206808.5:c.250-17955G>A (CLYBL) MANE Select | NP_996531.1:n.250-17955G>A |