Linked Data
ClinVar Variation Id:
1513624
ClinVar RCV Id:
RCV002026261
dbSNP Id:
rs1297822149
gnomAD v3:
11-72195264-C-G
gnomAD v4:
11-72195264-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72195264C>G , CM000673.2:g.72195264C>G | GRCh38 |
| NC_000011.9:g.71906308C>G , CM000673.1:g.71906308C>G | GRCh37 |
| NC_000011.8:g.71583956C>G | NCBI36 |
| NG_015863.1:g.10707C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000312293.9:c.169-7C>G | ENSP00000308137.4:n.169-7C>G | |
| ENST00000393676.5:c.169-7C>G MANE Select | ENSP00000377281.3:n.169-7C>G | |
| ENST00000675784.1:c.169-7C>G | ENSP00000502440.1:n.169-7C>G | |
| ENST00000312293.8:c.169-7C>G | ENSP00000308137.4:n.169-7C>G | |
| ENST00000393676.3:c.169-7C>G | ENSP00000377281.3:n.169-7C>G | |
| ENST00000393679.5:c.169-7C>G | ENSP00000377284.1:n.169-7C>G | |
| ENST00000393681.6:c.169-7C>G | ENSP00000377286.2:n.169-7C>G | |
| NM_000802.3:c.169-7C>G | NP_000793.1:n.169-7C>G | |
| NM_016724.2:c.169-7C>G | NP_057936.1:n.169-7C>G | |
| NM_016725.2:c.169-7C>G | NP_057937.1:n.169-7C>G | |
| NM_016729.2:c.169-7C>G | NP_057941.1:n.169-7C>G | |
| NM_016729.3:c.169-7C>G MANE Select | NP_057941.1:n.169-7C>G | |
| NM_016724.3:c.169-7C>G | NP_057936.1:n.169-7C>G | |
| NM_016725.3:c.169-7C>G | NP_057937.1:n.169-7C>G |