Linked Data
ClinVar Variation Id:
551658
ClinVar RCV Id:
RCV000666780
dbSNP Id:
rs1555204750
ERepo:
CA16020807/MONDO:0009861/006
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102855334T>C , CM000674.2:g.102855334T>C | GRCh38 |
| NC_000012.11:g.103249112T>C , CM000674.1:g.103249112T>C | GRCh37 |
| NC_000012.10:g.101773242T>C | NCBI36 |
| NG_008690.1:g.67269A>G | |
| NG_008690.2:g.108077A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000553106.6:c.510-2A>G MANE Select | ENSP00000448059.1:n.510-2A>G | |
| ENST00000307000.7:c.495-2A>G | ENSP00000303500.2:n.495-2A>G | |
| ENST00000549111.5:n.606-2A>G | ||
| ENST00000551988.5:n.531-2A>G | ||
| ENST00000553106.5:c.510-2A>G | ENSP00000448059.1:n.510-2A>G | |
| NM_000277.1:c.510-2A>G | NP_000268.1:n.510-2A>G | |
| XM_011538422.1:c.510-2A>G | XP_011536724.1:n.510-2A>G | |
| NM_000277.2:c.510-2A>G | NP_000268.1:n.510-2A>G | |
| NM_001354304.1:c.510-2A>G | NP_001341233.1:n.510-2A>G | |
| XM_017019370.2:c.510-2A>G | XP_016874859.1:n.510-2A>G | |
| NM_000277.3:c.510-2A>G MANE Select | NP_000268.1:n.510-2A>G | |
| NM_001354304.2:c.510-2A>G | NP_001341233.1:n.510-2A>G |