Linked Data
ClinVar Variation Id:
1259078
ClinVar RCV Id:
RCV001659315
dbSNP Id:
rs10830253
gnomAD v2:
11-89028043-T-G
gnomAD v3:
11-89294875-T-G
gnomAD v4:
11-89294875-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.89294875T>G , CM000673.2:g.89294875T>G | GRCh38 |
| NC_000011.9:g.89028043T>G , CM000673.1:g.89028043T>G | GRCh37 |
| NC_000011.8:g.88667691T>G | NCBI36 |
| NG_008748.1:g.122004T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263321.6:c.1367-268T>G MANE Select | ENSP00000263321.4:n.1367-268T>G | |
| ENST00000263321.5:c.1367-268T>G | ENSP00000263321.4:n.1367-268T>G | |
| ENST00000528243.1:n.365-268T>G | ||
| NM_000372.4:c.1367-268T>G | NP_000363.1:n.1367-268T>G | |
| XM_011542970.1:c.*45-268T>G | XP_011541272.1:n.*45-268T>G | |
| XM_011542970.2:c.*45-268T>G | XP_011541272.1:n.*45-268T>G | |
| NM_000372.5:c.1367-268T>G MANE Select | NP_000363.1:n.1367-268T>G |