Linked Data
ClinVar Variation Id:
403250
ClinVar RCV Id:
RCV001683502
dbSNP Id:
rs891512
ExAC:
7:150708089 A / G
gnomAD v2:
7-150708089-A-G
gnomAD v3:
7-151011001-A-G
gnomAD v4:
7-151011001-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151011001A>G , CM000669.2:g.151011001A>G | GRCh38 |
| NC_000007.13:g.150708089A>G , CM000669.1:g.150708089A>G | GRCh37 |
| NC_000007.12:g.150339022A>G | NCBI36 |
| NG_011992.1:g.24943A>G | |
| NG_030317.1:g.18499T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297494.8:c.2984+15A>G MANE Select | ENSP00000297494.3:n.2984+15A>G | |
| ENST00000297494.7:c.2984+15A>G | ENSP00000297494.3:n.2984+15A>G | |
| ENST00000461406.5:c.2366+15A>G | ENSP00000417143.1:n.2366+15A>G | |
| ENST00000468293.5:n.467+15A>G | ||
| ENST00000475017.1:c.865+15A>G | ||
| ENST00000477227.1:n.363+15A>G | ||
| NM_000603.4:c.2984+15A>G | NP_000594.2:n.2984+15A>G | |
| NM_000603.5:c.2984+15A>G MANE Select | NP_000594.2:n.2984+15A>G |