Linked Data
ClinVar Variation Id:
1262311
ClinVar RCV Id:
RCV001667430
dbSNP Id:
rs1800780
ExAC:
7:150698879 A / G
gnomAD v2:
7-150698879-A-G
gnomAD v3:
7-151001791-A-G
gnomAD v4:
7-151001791-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151001791A>G , CM000669.2:g.151001791A>G | GRCh38 |
| NC_000007.13:g.150698879A>G , CM000669.1:g.150698879A>G | GRCh37 |
| NC_000007.12:g.150329812A>G | NCBI36 |
| NG_011992.1:g.15733A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297494.8:c.1503-30A>G MANE Select | ENSP00000297494.3:n.1503-30A>G | |
| ENST00000297494.7:c.1503-30A>G | ENSP00000297494.3:n.1503-30A>G | |
| ENST00000461406.5:c.885-30A>G | ENSP00000417143.1:n.885-30A>G | |
| ENST00000467517.1:c.1503-30A>G | ENSP00000420551.1:n.1503-30A>G | |
| ENST00000484524.5:c.1503-30A>G | ENSP00000420215.1:n.1503-30A>G | |
| NM_000603.4:c.1503-30A>G | NP_000594.2:n.1503-30A>G | |
| NM_001160109.1:c.1503-30A>G | NP_001153581.1:n.1503-30A>G | |
| NM_001160110.1:c.1503-30A>G | NP_001153582.1:n.1503-30A>G | |
| NM_001160111.1:c.1503-30A>G | NP_001153583.1:n.1503-30A>G | |
| XM_006716002.2:c.1503-30A>G | XP_006716065.1:n.1503-30A>G | |
| NM_000603.5:c.1503-30A>G MANE Select | NP_000594.2:n.1503-30A>G | |
| NM_001160109.2:c.1503-30A>G | NP_001153581.1:n.1503-30A>G |