Linked Data
ClinVar Variation Id:
2586621
ClinVar RCV Id:
RCV003358379
dbSNP Id:
rs757201195
ExAC:
1:218520096 C / T
gnomAD v2:
1-218520096-C-T
gnomAD v4:
1-218346754-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218346754C>T , CM000663.2:g.218346754C>T | GRCh38 |
| NC_000001.10:g.218520096C>T , CM000663.1:g.218520096C>T | GRCh37 |
| NC_000001.9:g.216586719C>T | NCBI36 |
| NG_027721.1:g.6421C>T | |
| NG_027721.2:g.6421C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366930.9:c.53C>T MANE Select | ENSP00000355897.4:p.Ala18Val | |
| ENST00000366929.4:c.53C>T | ENSP00000355896.4:p.Ala18Val | |
| ENST00000366930.8:c.53C>T | ENSP00000355897.4:p.Ala18Val | |
| NM_001135599.2:c.53C>T | NP_001129071.1:p.Ala18Val | |
| NM_003238.3:c.53C>T | NP_003229.1:p.Ala18Val | |
| NM_001135599.3:c.53C>T | NP_001129071.1:p.Ala18Val | |
| NM_003238.4:c.53C>T | NP_003229.1:p.Ala18Val | |
| NR_138148.1:n.1471C>T | ||
| NR_138149.1:n.1471C>T | ||
| NM_003238.5:c.53C>T | NP_003229.1:p.Ala18Val | |
| NM_003238.6:c.53C>T MANE Select | NP_003229.1:p.Ala18Val | |
| NM_001135599.4:c.53C>T | NP_001129071.1:p.Ala18Val | |
| NR_138148.2:n.1419C>T | ||
| NR_138149.2:n.1419C>T |