Linked Data
ClinVar Variation Id:
2869964
ClinVar RCV Id:
RCV003610555
dbSNP Id:
rs1293124768
gnomAD v2:
12-121174957-C-G
gnomAD v3:
12-120737154-C-G
gnomAD v4:
12-120737154-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120737154C>G , CM000674.2:g.120737154C>G | GRCh38 |
| NC_000012.11:g.121174957C>G , CM000674.1:g.121174957C>G | GRCh37 |
| NC_000012.10:g.119659340C>G | NCBI36 |
| NG_007991.1:g.16387C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.360+19C>G MANE Select | ENSP00000242592.4:n.360+19C>G | |
| ENST00000242592.8:c.360+19C>G | ENSP00000242592.4:n.360+19C>G | |
| ENST00000411593.2:c.360+19C>G | ENSP00000401045.2:n.360+19C>G | |
| ENST00000539690.1:n.491C>G | ||
| NM_000017.3:c.360+19C>G | NP_000008.1:n.360+19C>G | |
| NM_001302554.1:c.360+19C>G | NP_001289483.1:n.360+19C>G | |
| NM_000017.4:c.360+19C>G MANE Select | NP_000008.1:n.360+19C>G | |
| NM_001302554.2:c.360+19C>G | NP_001289483.1:n.360+19C>G |