Linked Data
dbSNP Id:
rs766273173
ExAC:
20:62038549 G / C
gnomAD v2:
20-62038549-G-C
gnomAD v4:
20-63407196-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63407196G>C , CM000682.2:g.63407196G>C | GRCh38 |
| NC_000020.10:g.62038549G>C , CM000682.1:g.62038549G>C | GRCh37 |
| NC_000020.9:g.61508993G>C | NCBI36 |
| NG_009004.1:g.70445C>G | |
| NG_009004.2:g.70445C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2121C>G | ENSP00000516702.1:p.Ile707Met | |
| ENST00000359125.7:c.2067C>G MANE Select | ENSP00000352035.2:p.Ile689Met | |
| ENST00000637193.1:c.1464C>G | ENSP00000490734.1:p.Ile488Met | |
| ENST00000344462.8:c.1974C>G | ENSP00000339611.4:p.Ile658Met | |
| ENST00000357249.6:c.1635C>G | ENSP00000349789.3:p.Ile545Met | |
| ENST00000359125.6:c.2067C>G | ENSP00000352035.2:p.Ile689Met | |
| ENST00000360480.7:c.1983C>G | ENSP00000353668.3:p.Ile661Met | |
| ENST00000370224.5:c.2091C>G | ENSP00000359244.2:p.Ile697Met | |
| ENST00000625514.2:c.2055C>G | ENSP00000486040.1:p.Ile685Met | |
| ENST00000626839.2:c.2013C>G | ENSP00000486706.1:p.Ile671Met | |
| ENST00000629241.2:c.1983C>G | ENSP00000487142.1:p.Ile661Met | |
| ENST00000629676.2:c.1679+6254C>G | ENSP00000486194.1:n.1679+6254C>G | |
| NM_004518.4:c.1983C>G | NP_004509.2:p.Ile661Met | |
| NM_172106.1:c.2013C>G | NP_742104.1:p.Ile671Met | |
| NM_172107.2:c.2067C>G | NP_742105.1:p.Ile689Met | |
| NM_172108.3:c.1974C>G | NP_742106.1:p.Ile658Met | |
| XM_006723787.1:c.2109C>G | XP_006723850.1:p.Ile703Met | |
| XM_011528807.1:c.2175C>G | XP_011527109.1:p.Ile725Met | |
| XM_011528808.1:c.2172C>G | XP_011527110.1:p.Ile724Met | |
| XM_011528809.1:c.2145C>G | XP_011527111.1:p.Ile715Met | |
| XM_011528810.1:c.2121C>G | XP_011527112.1:p.Ile707Met | |
| XM_011528811.1:c.2091C>G | XP_011527113.1:p.Ile697Met | |
| XM_011528812.1:c.2064C>G | XP_011527114.1:p.Ile688Met | |
| XM_011528813.1:c.2049C>G | XP_011527115.1:p.Ile683Met | |
| XM_011528814.1:c.1656C>G | XP_011527116.1:p.Ile552Met | |
| NM_004518.5:c.1983C>G | NP_004509.2:p.Ile661Met | |
| NM_172106.2:c.2013C>G | NP_742104.1:p.Ile671Met | |
| NM_172107.3:c.2067C>G | NP_742105.1:p.Ile689Met | |
| NM_172108.4:c.1974C>G | NP_742106.1:p.Ile658Met | |
| XM_011528810.2:c.2121C>G | XP_011527112.1:p.Ile707Met | |
| XM_011528811.2:c.2091C>G | XP_011527113.1:p.Ile697Met | |
| XM_017027841.2:c.2118C>G | XP_016883330.1:p.Ile706Met | |
| XM_017027842.2:c.2055C>G | XP_016883331.1:p.Ile685Met | |
| XM_017027843.1:c.2052C>G | XP_016883332.1:p.Ile684Met | |
| XM_017027844.2:c.2010C>G | XP_016883333.1:p.Ile670Met | |
| XM_017027845.1:c.1083C>G | XP_016883334.1:p.Ile361Met | |
| NM_004518.6:c.1983C>G | NP_004509.2:p.Ile661Met | |
| NM_172106.3:c.2013C>G | NP_742104.1:p.Ile671Met | |
| NM_172107.4:c.2067C>G MANE Select | NP_742105.1:p.Ile689Met | |
| NM_172108.5:c.1974C>G | NP_742106.1:p.Ile658Met | |
| NM_001382235.1:c.2121C>G | NP_001369164.1:p.Ile707Met |