Linked Data
ClinVar Variation Id:
488730
ClinVar RCV Id:
RCV000713224
RCV000644836
RCV001165667
RCV001169651
RCV001706679
RCV001848978
RCV002358638
RCV004530626
dbSNP Id:
rs374656811
ExAC:
9:135172269 C / T
gnomAD v2:
9-135172269-C-T
gnomAD v3:
9-132296882-C-T
gnomAD v4:
9-132296882-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132296882C>T , CM000671.2:g.132296882C>T | GRCh38 |
| NC_000009.11:g.135172269C>T , CM000671.1:g.135172269C>T | GRCh37 |
| NC_000009.10:g.134162090C>T | NCBI36 |
| NG_007946.1:g.63104G>A , LRG_268:g.63104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224140.6:c.5949+5G>A MANE Select | ENSP00000224140.5:n.5949+5G>A | |
| ENST00000224140.5:c.5949+5G>A | ENSP00000224140.5:n.5949+5G>A | |
| ENST00000436441.5:c.675+5G>A | ENSP00000409143.1:n.675+5G>A | |
| NM_015046.5:c.5949+5G>A , LRG_268t1:c.5949+5G>A | NP_055861.3:n.5949+5G>A | |
| XM_005272171.1:c.5949+5G>A | XP_005272228.1:n.5949+5G>A | |
| XM_005272172.1:c.5949+5G>A | XP_005272229.1:n.5949+5G>A | |
| XM_005272173.1:c.5949+5G>A | XP_005272230.1:n.5949+5G>A | |
| XM_011518404.1:c.5949+5G>A | XP_011516706.1:n.5949+5G>A | |
| XM_011518405.1:c.5949+5G>A | XP_011516707.1:n.5949+5G>A | |
| XM_011518406.1:c.5949+5G>A | XP_011516708.1:n.5949+5G>A | |
| XM_011518407.1:c.5949+5G>A | XP_011516709.1:n.5949+5G>A | |
| XM_011518408.1:c.5949+5G>A | XP_011516710.1:n.5949+5G>A | |
| XR_929739.1:n.5865+5G>A | ||
| NM_001351527.1:c.5949+5G>A | NP_001338456.1:n.5949+5G>A | |
| NM_001351528.1:c.5949+5G>A | NP_001338457.1:n.5949+5G>A | |
| NM_015046.6:c.5949+5G>A | NP_055861.3:n.5949+5G>A | |
| XM_005272172.3:c.5949+5G>A | XP_005272229.1:n.5949+5G>A | |
| XM_005272173.3:c.5949+5G>A | XP_005272230.1:n.5949+5G>A | |
| XM_011518404.3:c.5949+5G>A | XP_011516706.1:n.5949+5G>A | |
| XM_011518405.3:c.5949+5G>A | XP_011516707.1:n.5949+5G>A | |
| XM_011518406.2:c.5949+5G>A | XP_011516708.1:n.5949+5G>A | |
| XM_011518408.3:c.5949+5G>A | XP_011516710.1:n.5949+5G>A | |
| XM_017014496.1:c.402+5G>A | XP_016869985.1:n.402+5G>A | |
| XR_001746251.1:n.5504+5G>A | ||
| XR_929739.2:n.5865+5G>A | ||
| NM_015046.7:c.5949+5G>A MANE Select | NP_055861.3:n.5949+5G>A | |
| NM_001351528.2:c.5949+5G>A | NP_001338457.1:n.5949+5G>A | |
| NM_001351527.2:c.5949+5G>A | NP_001338456.1:n.5949+5G>A |