Linked Data
ClinVar Variation Id:
225036
dbSNP Id:
rs761389904
ExAC:
20:13797166 T / G
gnomAD v2:
20-13797166-T-G
gnomAD v3:
20-13816520-T-G
gnomAD v4:
20-13816520-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.13816520T>G , CM000682.2:g.13816520T>G | GRCh38 |
| NC_000020.10:g.13797166T>G , CM000682.1:g.13797166T>G | GRCh37 |
| NC_000020.9:g.13745166T>G | NCBI36 |
| NG_015811.1:g.36495T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378106.10:c.836T>G MANE Select | ENSP00000367346.5:p.Met279Arg | |
| ENST00000378081.9:c.*130T>G | ENSP00000437325.1:n.*130T>G | |
| ENST00000378106.9:c.836T>G | ENSP00000367346.5:p.Met279Arg | |
| ENST00000463598.1:c.752T>G | ENSP00000420497.1:p.Met251Arg | |
| ENST00000475968.5:n.713T>G | ||
| ENST00000476200.5:n.497T>G | ||
| ENST00000479682.5:n.456T>G | ||
| ENST00000479716.5:n.300-355T>G | ||
| ENST00000487478.5:n.414T>G | ||
| NM_001039375.2:c.752T>G | NP_001034464.1:p.Met251Arg | |
| NM_024120.4:c.836T>G | NP_077025.2:p.Met279Arg | |
| NR_029377.1:n.977T>G | ||
| XM_006723622.2:c.365T>G | XP_006723685.1:p.Met122Arg | |
| XM_006723623.1:c.365T>G | XP_006723686.1:p.Met122Arg | |
| XM_006723624.1:c.365T>G | XP_006723687.1:p.Met122Arg | |
| XM_011529341.1:c.779-355T>G | XP_011527643.1:n.779-355T>G | |
| XM_011529344.1:c.467T>G | XP_011527646.1:p.Met156Arg | |
| XR_430269.2:n.1010T>G | ||
| XR_937140.1:n.897-355T>G | ||
| NM_001352403.1:c.365T>G | NP_001339332.1:p.Met122Arg | |
| NM_001352406.1:c.275T>G | NP_001339335.1:p.Met92Arg | |
| NM_001352407.1:c.275T>G | NP_001339336.1:p.Met92Arg | |
| NR_147978.1:n.935T>G | ||
| NR_147979.1:n.997T>G | ||
| NR_147980.1:n.873T>G | ||
| NR_147981.1:n.1111T>G | ||
| NR_147982.1:n.1167T>G | ||
| NR_147983.1:n.1027T>G | ||
| XM_006723624.2:c.365T>G | XP_006723687.1:p.Met122Arg | |
| XM_024451999.1:c.365T>G | XP_024307767.1:p.Met122Arg | |
| XR_001754396.1:n.893T>G | ||
| XR_430269.3:n.1010T>G | ||
| XR_937140.2:n.897-355T>G | ||
| NM_024120.5:c.836T>G MANE Select | NP_077025.2:p.Met279Arg | |
| NM_001039375.3:c.752T>G | NP_001034464.1:p.Met251Arg | |
| NM_001352403.2:c.365T>G | NP_001339332.1:p.Met122Arg | |
| NM_001352406.2:c.275T>G | NP_001339335.1:p.Met92Arg | |
| NM_001352407.2:c.275T>G | NP_001339336.1:p.Met92Arg | |
| NR_029377.2:n.975T>G | ||
| NR_147978.2:n.933T>G | ||
| NR_147979.2:n.995T>G | ||
| NR_147980.2:n.871T>G | ||
| NR_147981.2:n.1109T>G | ||
| NR_147982.2:n.1165T>G | ||
| NR_147983.2:n.1025T>G |