Linked Data
ClinVar Variation Id:
381826
ClinVar RCV Id:
RCV000426890
dbSNP Id:
rs1057521183
gnomAD v2:
11-67800761-G-T
gnomAD v4:
11-68033294-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68033294G>T , CM000673.2:g.68033294G>T | GRCh38 |
| NC_000011.9:g.67800761G>T , CM000673.1:g.67800761G>T | GRCh37 |
| NC_000011.8:g.67557337G>T | NCBI36 |
| NG_017040.1:g.7678G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000313468.10:c.372+11G>T MANE Select | ENSP00000315774.5:n.372+11G>T | |
| ENST00000313468.9:c.372+11G>T | ENSP00000315774.5:n.372+11G>T | |
| ENST00000432321.6:n.500G>T | ||
| ENST00000524810.5:c.143+11G>T | ||
| ENST00000525419.5:c.318+11G>T | ENSP00000433521.1:n.318+11G>T | |
| ENST00000526339.5:c.372+11G>T | ENSP00000436287.1:n.372+11G>T | |
| ENST00000526446.5:c.*427+11G>T | ENSP00000433645.1:n.*427+11G>T | |
| ENST00000528492.1:c.-67+2561G>T | ENSP00000432848.1:n.-67+2561G>T | |
| ENST00000529645.1:c.550+11G>T | ENSP00000431293.1:n.550+11G>T | |
| ENST00000532399.1:n.1088G>T | ||
| NM_002496.3:c.372+11G>T | NP_002487.1:n.372+11G>T | |
| XM_005274013.1:c.372+11G>T | XP_005274070.1:n.372+11G>T | |
| XM_005274014.1:c.372+11G>T | XP_005274071.1:n.372+11G>T | |
| XM_005274015.1:c.252+11G>T | XP_005274072.1:n.252+11G>T | |
| XM_011545053.1:c.372+11G>T | XP_011543355.1:n.372+11G>T | |
| NM_002496.4:c.372+11G>T MANE Select | NP_002487.1:n.372+11G>T |