Linked Data
ClinVar Variation Id:
347776
dbSNP Id:
rs142937995
ExAC:
4:155490958 G / A
gnomAD v2:
4-155490958-G-A
gnomAD v3:
4-154569806-G-A
gnomAD v4:
4-154569806-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154569806G>A , CM000666.2:g.154569806G>A | GRCh38 |
| NC_000004.11:g.155490958G>A , CM000666.1:g.155490958G>A | GRCh37 |
| NC_000004.10:g.155710408G>A | NCBI36 |
| NG_008833.1:g.11827G>A , LRG_558:g.11827G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302068.9:c.1244+7G>A MANE Select | ENSP00000306099.4:n.1244+7G>A | |
| ENST00000302068.8:c.1244+7G>A | ENSP00000306099.4:n.1244+7G>A | |
| ENST00000502545.5:n.939+499G>A | ||
| ENST00000509493.1:c.587+7G>A | ENSP00000426757.1:n.587+7G>A | |
| NM_001184741.1:c.1067+7G>A | NP_001171670.1:n.1067+7G>A | |
| NM_005141.4:c.1244+7G>A , LRG_558t1:c.1244+7G>A | NP_005132.2:n.1244+7G>A | |
| NM_001382759.1:c.1112+7G>A | NP_001369688.1:n.1112+7G>A | |
| NM_001382760.1:c.1244+7G>A | NP_001369689.1:n.1244+7G>A | |
| NM_001382761.1:c.1244+7G>A | NP_001369690.1:n.1244+7G>A | |
| NM_001382762.1:c.944+7G>A | NP_001369691.1:n.944+7G>A | |
| NM_001382763.1:c.1235+7G>A | NP_001369692.1:n.1235+7G>A | |
| NM_001382764.1:c.*18+7G>A | NP_001369693.1:n.*18+7G>A | |
| NM_001382765.1:c.1220+31G>A | NP_001369694.1:n.1220+31G>A | |
| NM_005141.5:c.1244+7G>A MANE Select | NP_005132.2:n.1244+7G>A |