Linked Data
ClinVar Variation Id:
2941605
ClinVar RCV Id:
RCV003802627
dbSNP Id:
rs1289908513
gnomAD v2:
X-153581217-G-C
gnomAD v3:
X-154352849-G-C
gnomAD v4:
X-154352849-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154352849G>C , CM000685.2:g.154352849G>C | GRCh38 |
| NC_000023.10:g.153581217G>C , CM000685.1:g.153581217G>C | GRCh37 |
| NC_000023.9:g.153234411G>C | NCBI36 |
| NG_011506.1:g.26790C>G | |
| NG_011506.2:g.26790C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360319.9:c.6278C>G | ENSP00000353467.4:p.Thr2093Arg | |
| ENST00000369850.10:c.6302C>G MANE Select | ENSP00000358866.3:p.Thr2101Arg | |
| ENST00000369856.8:c.6221C>G | ENSP00000358872.4:p.Thr2074Arg | |
| ENST00000422373.6:c.3161-174C>G | ENSP00000416926.2:n.3161-174C>G | |
| ENST00000610817.5:c.6359C>G | ENSP00000480593.2:n.6359C>G | |
| ENST00000673639.2:c.280-4159C>G | ||
| ENST00000676696.1:c.6581C>G | ENSP00000503392.1:n.6581C>G | |
| ENST00000678304.1:n.1481C>G | ||
| ENST00000344736.8:c.6182C>G | ENSP00000358863.3:p.Thr2061Arg | |
| ENST00000360319.8:c.6278C>G | ENSP00000353467.4:p.Thr2093Arg | |
| ENST00000369850.7:c.6302C>G | ENSP00000358866.3:p.Thr2101Arg | |
| ENST00000369856.7:c.6221C>G | ENSP00000358872.4:p.Thr2074Arg | |
| ENST00000415241.1:c.504C>G | ||
| ENST00000420627.5:c.6258C>G | ENSP00000408921.1:n.6258C>G | |
| ENST00000422373.5:c.6278C>G | ENSP00000416926.1:p.Thr2093Arg | |
| ENST00000444578.1:c.245C>G | ENSP00000397824.1:p.Thr82Arg | |
| ENST00000466325.1:n.517C>G | ||
| ENST00000490936.5:n.2291C>G | ||
| ENST00000498411.1:n.35C>G | ||
| ENST00000610817.4:c.5844+544C>G | ENSP00000480593.1:n.5844+544C>G | |
| NM_001110556.1:c.6302C>G | NP_001104026.1:p.Thr2101Arg | |
| NM_001456.3:c.6278C>G | NP_001447.2:p.Thr2093Arg | |
| XM_011531127.1:c.6206C>G | XP_011529429.1:p.Thr2069Arg | |
| XM_011531128.1:c.6182C>G | XP_011529430.1:p.Thr2061Arg | |
| XM_011531129.1:c.6128C>G | XP_011529431.1:p.Thr2043Arg | |
| XM_011531130.1:c.6104C>G | XP_011529432.1:p.Thr2035Arg | |
| XM_011531131.1:c.6101C>G | XP_011529433.1:p.Thr2034Arg | |
| NM_001110556.2:c.6302C>G MANE Select | NP_001104026.1:p.Thr2101Arg | |
| NM_001456.4:c.6278C>G | NP_001447.2:p.Thr2093Arg |