Linked Data
ClinVar Variation Id:
459173
dbSNP Id:
rs1454454086
gnomAD v2:
1-17345403-G-C
gnomAD v4:
1-17018908-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17018908G>C , CM000663.2:g.17018908G>C | GRCh38 |
| NC_000001.10:g.17345403G>C , CM000663.1:g.17345403G>C | GRCh37 |
| NC_000001.9:g.17217990G>C | NCBI36 |
| NG_012340.1:g.40263C>G , LRG_316:g.40263C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000463045.3:c.645C>G | ENSP00000481376.2:p.Thr215= | |
| ENST00000491274.6:c.774C>G | ENSP00000480482.2:p.Thr258= | |
| ENST00000375499.8:c.816C>G MANE Select | ENSP00000364649.3:p.Thr272= | |
| ENST00000375499.7:c.816C>G | ENSP00000364649.3:p.Thr272= | |
| ENST00000475049.5:n.241C>G | ||
| ENST00000485092.5:n.480C>G | ||
| NM_003000.2:c.816C>G , LRG_316t1:c.816C>G | NP_002991.2:p.Thr272= | |
| NM_003000.3:c.816C>G MANE Select | NP_002991.2:p.Thr272= |