Linked Data
ClinVar Variation Id:
2913774
ClinVar RCV Id:
RCV003735544
dbSNP Id:
rs1439470206
gnomAD v3:
4-154744867-G-A
gnomAD v4:
4-154744867-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.154744867G>A , CM000666.2:g.154744867G>A | GRCh38 |
| NC_000004.11:g.155666019G>A , CM000666.1:g.155666019G>A | GRCh37 |
| NC_000004.10:g.155885469G>A | NCBI36 |
| NG_009110.1:g.5857G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000336356.4:c.540+1G>A MANE Select | ENSP00000337224.3:n.540+1G>A | |
| ENST00000336356.3:c.540+1G>A | ENSP00000337224.3:n.540+1G>A | |
| ENST00000499392.1:n.472-3322G>A | ||
| ENST00000507827.5:c.540+1G>A | ENSP00000426761.1:n.540+1G>A | |
| ENST00000510733.1:n.867+1G>A | ||
| NM_001301645.1:c.540+1G>A | NP_001288574.1:n.540+1G>A | |
| NM_004744.4:c.540+1G>A | NP_004735.2:n.540+1G>A | |
| XM_006714412.2:c.540+1G>A | XP_006714475.1:n.540+1G>A | |
| XR_938793.1:n.876+1G>A | ||
| XR_938793.2:n.872+1G>A | ||
| NM_004744.5:c.540+1G>A MANE Select | NP_004735.2:n.540+1G>A | |
| NM_001301645.2:c.540+1G>A | NP_001288574.1:n.540+1G>A |