Linked Data
ClinVar Variation Id:
408431
dbSNP Id:
rs1027195424
gnomAD v2:
1-218520252-T-C
gnomAD v3:
1-218346910-T-C
gnomAD v4:
1-218346910-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.218346910T>C , CM000663.2:g.218346910T>C | GRCh38 |
| NC_000001.10:g.218520252T>C , CM000663.1:g.218520252T>C | GRCh37 |
| NC_000001.9:g.216586875T>C | NCBI36 |
| NG_027721.1:g.6577T>C | |
| NG_027721.2:g.6577T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366930.9:c.209T>C MANE Select | ENSP00000355897.4:p.Ile70Thr | |
| ENST00000366929.4:c.209T>C | ENSP00000355896.4:p.Ile70Thr | |
| ENST00000366930.8:c.209T>C | ENSP00000355897.4:p.Ile70Thr | |
| NM_001135599.2:c.209T>C | NP_001129071.1:p.Ile70Thr | |
| NM_003238.3:c.209T>C | NP_003229.1:p.Ile70Thr | |
| NM_001135599.3:c.209T>C | NP_001129071.1:p.Ile70Thr | |
| NM_003238.4:c.209T>C | NP_003229.1:p.Ile70Thr | |
| NR_138148.1:n.1627T>C | ||
| NR_138149.1:n.1627T>C | ||
| NM_003238.5:c.209T>C | NP_003229.1:p.Ile70Thr | |
| NM_003238.6:c.209T>C MANE Select | NP_003229.1:p.Ile70Thr | |
| NM_001135599.4:c.209T>C | NP_001129071.1:p.Ile70Thr | |
| NR_138148.2:n.1575T>C | ||
| NR_138149.2:n.1575T>C |