Linked Data
ClinVar Variation Id:
530437
dbSNP Id:
rs1449467609
gnomAD v2:
20-62038338-G-A
gnomAD v3:
20-63406985-G-A
gnomAD v4:
20-63406985-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.63406985G>A , CM000682.2:g.63406985G>A | GRCh38 |
| NC_000020.10:g.62038338G>A , CM000682.1:g.62038338G>A | GRCh37 |
| NC_000020.9:g.61508782G>A | NCBI36 |
| NG_009004.1:g.70656C>T | |
| NG_009004.2:g.70656C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706989.1:c.2332C>T | ENSP00000516702.1:p.Arg778Cys | |
| ENST00000359125.7:c.2278C>T MANE Select | ENSP00000352035.2:p.Arg760Cys | |
| ENST00000637193.1:c.1675C>T | ENSP00000490734.1:p.Arg559Cys | |
| ENST00000344462.8:c.2185C>T | ENSP00000339611.4:p.Arg729Cys | |
| ENST00000357249.6:c.1846C>T | ENSP00000349789.3:p.Arg616Cys | |
| ENST00000359125.6:c.2278C>T | ENSP00000352035.2:p.Arg760Cys | |
| ENST00000360480.7:c.2194C>T | ENSP00000353668.3:p.Arg732Cys | |
| ENST00000370224.5:c.2241+61C>T | ENSP00000359244.2:n.2241+61C>T | |
| ENST00000625514.2:c.2205+61C>T | ENSP00000486040.1:n.2205+61C>T | |
| ENST00000626839.2:c.2224C>T | ENSP00000486706.1:p.Arg742Cys | |
| ENST00000629241.2:c.2133+61C>T | ENSP00000487142.1:n.2133+61C>T | |
| ENST00000629676.2:c.1680-6142C>T | ENSP00000486194.1:n.1680-6142C>T | |
| NM_004518.4:c.2194C>T | NP_004509.2:p.Arg732Cys | |
| NM_172106.1:c.2224C>T | NP_742104.1:p.Arg742Cys | |
| NM_172107.2:c.2278C>T | NP_742105.1:p.Arg760Cys | |
| NM_172108.3:c.2185C>T | NP_742106.1:p.Arg729Cys | |
| XM_006723787.1:c.2320C>T | XP_006723850.1:p.Arg774Cys | |
| XM_011528807.1:c.2386C>T | XP_011527109.1:p.Arg796Cys | |
| XM_011528808.1:c.2383C>T | XP_011527110.1:p.Arg795Cys | |
| XM_011528809.1:c.2356C>T | XP_011527111.1:p.Arg786Cys | |
| XM_011528810.1:c.2332C>T | XP_011527112.1:p.Arg778Cys | |
| XM_011528811.1:c.2302C>T | XP_011527113.1:p.Arg768Cys | |
| XM_011528812.1:c.2275C>T | XP_011527114.1:p.Arg759Cys | |
| XM_011528813.1:c.2260C>T | XP_011527115.1:p.Arg754Cys | |
| XM_011528814.1:c.1867C>T | XP_011527116.1:p.Arg623Cys | |
| NM_004518.5:c.2194C>T | NP_004509.2:p.Arg732Cys | |
| NM_172106.2:c.2224C>T | NP_742104.1:p.Arg742Cys | |
| NM_172107.3:c.2278C>T | NP_742105.1:p.Arg760Cys | |
| NM_172108.4:c.2185C>T | NP_742106.1:p.Arg729Cys | |
| XM_011528810.2:c.2332C>T | XP_011527112.1:p.Arg778Cys | |
| XM_011528811.2:c.2302C>T | XP_011527113.1:p.Arg768Cys | |
| XM_017027841.2:c.2329C>T | XP_016883330.1:p.Arg777Cys | |
| XM_017027842.2:c.2266C>T | XP_016883331.1:p.Arg756Cys | |
| XM_017027843.1:c.2263C>T | XP_016883332.1:p.Arg755Cys | |
| XM_017027844.2:c.2221C>T | XP_016883333.1:p.Arg741Cys | |
| XM_017027845.1:c.1294C>T | XP_016883334.1:p.Arg432Cys | |
| NM_004518.6:c.2194C>T | NP_004509.2:p.Arg732Cys | |
| NM_172106.3:c.2224C>T | NP_742104.1:p.Arg742Cys | |
| NM_172107.4:c.2278C>T MANE Select | NP_742105.1:p.Arg760Cys | |
| NM_172108.5:c.2185C>T | NP_742106.1:p.Arg729Cys | |
| NM_001382235.1:c.2332C>T | NP_001369164.1:p.Arg778Cys |