Linked Data
ClinVar Variation Id:
2136404
ClinVar RCV Id:
RCV003037162
dbSNP Id:
rs1467200206
gnomAD v2:
4-178359995-T-C
gnomAD v3:
4-177438841-T-C
gnomAD v4:
4-177438841-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177438841T>C , CM000666.2:g.177438841T>C | GRCh38 |
| NC_000004.11:g.178359995T>C , CM000666.1:g.178359995T>C | GRCh37 |
| NC_000004.10:g.178596989T>C | NCBI36 |
| NG_011845.2:g.8663A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.411A>G MANE Select | ENSP00000264595.2:p.Gln137= | |
| ENST00000264595.6:c.411A>G | ENSP00000264595.2:p.Gln137= | |
| ENST00000502310.5:c.66A>G | ENSP00000423798.1:p.Gln22= | |
| ENST00000506853.5:n.445A>G | ||
| ENST00000510635.1:c.107A>G | ||
| ENST00000510955.5:n.332A>G | ||
| NM_000027.3:c.411A>G | NP_000018.2:p.Gln137= | |
| NM_001171988.1:c.411A>G | NP_001165459.1:p.Gln137= | |
| NR_033655.1:n.539A>G | ||
| XM_006714123.2:c.411A>G | XP_006714186.1:p.Gln137= | |
| XR_001741155.2:n.505A>G | ||
| NM_000027.4:c.411A>G MANE Select | NP_000018.2:p.Gln137= | |
| NM_001171988.2:c.411A>G | NP_001165459.1:p.Gln137= | |
| NR_033655.2:n.473A>G |