Linked Data
ClinVar Variation Id:
155940
ClinVar RCV Id:
RCV000144055
dbSNP Id:
rs587776396
gnomAD v4:
1-218436283-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218436283C>T , CM000663.2:g.218436283C>T | GRCh38 |
| NC_000001.10:g.218609625C>T , CM000663.1:g.218609625C>T | GRCh37 |
| NC_000001.9:g.216676248C>T | NCBI36 |
| NG_027721.1:g.95950C>T | |
| NG_027721.2:g.95950C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.932+136C>T MANE Select | ENSP00000355897.4:n.932+136C>T | |
| ENST00000366929.4:c.1016+136C>T | ENSP00000355896.4:n.1016+136C>T | |
| ENST00000366930.8:c.932+136C>T | ENSP00000355897.4:n.932+136C>T | |
| ENST00000479322.1:n.416+136C>T | ||
| NM_001135599.2:c.1016+136C>T | NP_001129071.1:n.1016+136C>T | |
| NM_003238.3:c.932+136C>T | NP_003229.1:n.932+136C>T | |
| NM_001135599.3:c.1016+136C>T | NP_001129071.1:n.1016+136C>T | |
| NM_003238.4:c.932+136C>T | NP_003229.1:n.932+136C>T | |
| NR_138148.1:n.2235+136C>T | ||
| NR_138149.1:n.2319+136C>T | ||
| NM_003238.5:c.932+136C>T | NP_003229.1:n.932+136C>T | |
| NM_003238.6:c.932+136C>T MANE Select | NP_003229.1:n.932+136C>T | |
| NM_001135599.4:c.1016+136C>T | NP_001129071.1:n.1016+136C>T | |
| NR_138148.2:n.2183+136C>T | ||
| NR_138149.2:n.2267+136C>T |