Linked Data
ClinVar Variation Id:
226903
dbSNP Id:
rs143985593
ExAC:
11:17634160 C / T
gnomAD v2:
11-17634160-C-T
gnomAD v3:
11-17612613-C-T
gnomAD v4:
11-17612613-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17612613C>T , CM000673.2:g.17612613C>T | GRCh38 |
| NC_000011.9:g.17634160C>T , CM000673.1:g.17634160C>T | GRCh37 |
| NC_000011.8:g.17590736C>T | NCBI36 |
| NG_033191.1:g.70241C>T | |
| NG_033191.2:g.70241C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.6329-7C>T | ENSP00000382323.2:n.6329-7C>T | |
| ENST00000399397.6:c.6293-7C>T MANE Select | ENSP00000382329.2:n.6293-7C>T | |
| ENST00000342528.2:c.3347-7C>T | ENSP00000341666.2:n.3347-7C>T | |
| ENST00000399391.6:c.6329-7C>T | ENSP00000382323.2:n.6329-7C>T | |
| ENST00000399397.5:c.6293-7C>T | ENSP00000382329.2:n.6293-7C>T | |
| NM_001277269.1:c.6329-7C>T | NP_001264198.1:n.6329-7C>T | |
| NM_001292063.1:c.6293-7C>T | NP_001278992.1:n.6293-7C>T | |
| NM_001277269.2:c.6329-7C>T | NP_001264198.1:n.6329-7C>T | |
| NM_001292063.2:c.6293-7C>T MANE Select | NP_001278992.1:n.6293-7C>T |