Linked Data
dbSNP Id:
rs145195996
ExAC:
11:121393359 G / A
gnomAD v2:
11-121393359-G-A
gnomAD v3:
11-121522650-G-A
gnomAD v4:
11-121522650-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.121522650G>A , CM000673.2:g.121522650G>A | GRCh38 |
| NC_000011.9:g.121393359G>A , CM000673.1:g.121393359G>A | GRCh37 |
| NC_000011.8:g.120898569G>A | NCBI36 |
| NG_023313.1:g.75399G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260197.12:c.1469G>A MANE Select | ENSP00000260197.6:p.Arg490Gln | |
| ENST00000260197.11:c.1469G>A | ENSP00000260197.6:p.Arg490Gln | |
| ENST00000532451.1:n.1421G>A | ||
| NM_003105.5:c.1469G>A | NP_003096.1:p.Arg490Gln | |
| XM_011542963.1:c.1469G>A | XP_011541265.1:p.Arg490Gln | |
| XM_011542964.1:c.1469G>A | XP_011541266.1:p.Arg490Gln | |
| XM_011542965.1:c.-154G>A | XP_011541267.1:n.-154G>A | |
| XM_011542963.3:c.1469G>A | XP_011541265.1:p.Arg490Gln | |
| XM_011542965.3:c.-154G>A | XP_011541267.1:n.-154G>A | |
| XM_017018169.2:c.1157G>A | XP_016873658.1:p.Arg386Gln | |
| XM_017018170.2:c.944G>A | XP_016873659.1:p.Arg315Gln | |
| XM_017018171.1:c.1469G>A | XP_016873660.1:p.Arg490Gln | |
| NM_003105.6:c.1469G>A MANE Select | NP_003096.2:p.Arg490Gln |