Linked Data
gnomAD v3:
11-119052780-G-A
gnomAD v4:
11-119052780-G-A
MyVariant Identifiers:
chr11:g.119052780G>A (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119052780G>A , CM000673.2:g.119052780G>A | GRCh38 |
| NC_000011.8:g.118428702G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000527038.7:c.844C>T | ENSP00000463742.3:p.Arg282Cys | |
| ENST00000530467.6:c.844C>T | ENSP00000479845.2:p.Arg282Cys | |
| ENST00000530473.6:c.844C>T | ENSP00000431874.2:p.Arg282Cys | |
| ENST00000532421.6:c.844C>T | ENSP00000463515.2:p.Arg282Cys | |
| ENST00000532519.7:c.844C>T | ENSP00000467866.3:p.Arg282Cys | |
| ENST00000533381.6:n.1081C>T | ||
| ENST00000534233.6:c.844C>T | ENSP00000462951.2:p.Arg282Cys | |
| ENST00000610597.2:c.844C>T | ENSP00000484622.2:p.Arg282Cys | |
| ENST00000614711.5:c.844C>T | ENSP00000480248.2:p.Arg282Cys | |
| ENST00000694929.1:n.1398C>T | ||
| ENST00000694930.1:n.1034C>T | ||
| ENST00000694932.1:c.844C>T | ENSP00000511598.1:p.Arg282Cys | |
| ENST00000694933.1:c.844C>T | ENSP00000511599.1:p.Arg282Cys | |
| ENST00000694934.1:c.844C>T | ENSP00000511600.1:p.Arg282Cys | |
| ENST00000694935.1:c.844C>T | ENSP00000511601.1:p.Arg282Cys | |
| ENST00000694937.1:c.*363C>T | ENSP00000511603.1:n.*363C>T | |
| ENST00000617285.5:c.844C>T MANE Select | ENSP00000480150.1:p.Arg282Cys | |
| ENST00000652093.1:c.844C>T | ENSP00000498353.1:p.Arg282Cys | |
| ENST00000530473.5:c.844C>T | ENSP00000431874.1:p.Arg282Cys | |
| ENST00000531694.5:n.1950C>T | ||
| ENST00000532519.6:c.844C>T | ENSP00000467866.2:p.Arg282Cys | |
| ENST00000543287.5:c.*633C>T | ENSP00000442727.2:n.*633C>T | |
| ENST00000612687.4:c.844C>T | ENSP00000483106.1:p.Arg282Cys | |
| ENST00000614668.4:c.436+2264C>T | ENSP00000482199.1:n.436+2264C>T | |
| ENST00000614711.4:c.844C>T | ENSP00000480248.1:p.Arg282Cys | |
| ENST00000617285.4:c.844C>T | ENSP00000480150.1:p.Arg282Cys | |
| ENST00000621959.4:c.844C>T | ENSP00000484186.1:p.Arg282Cys | |
| NM_001130991.2:c.844C>T | NP_001124463.1:p.Arg282Cys | |
| NM_006389.4:c.844C>T | NP_006380.1:p.Arg282Cys | |
| XM_005271392.2:c.844C>T | XP_005271449.1:p.Arg282Cys | |
| XM_005271393.2:c.844C>T | XP_005271450.1:p.Arg282Cys | |
| XM_005271394.2:c.844C>T | XP_005271451.1:p.Arg282Cys | |
| XM_011542557.1:c.976C>T | XP_011540859.1:p.Arg326Cys | |
| XM_011542558.1:c.976C>T | XP_011540860.1:p.Arg326Cys | |
| XR_947790.1:n.991C>T | ||
| XM_005271392.4:c.844C>T | XP_005271449.1:p.Arg282Cys | |
| XM_005271393.3:c.844C>T | XP_005271450.1:p.Arg282Cys | |
| XM_005271394.3:c.844C>T | XP_005271451.1:p.Arg282Cys | |
| XM_017017095.1:c.844C>T | XP_016872584.1:p.Arg282Cys | |
| XM_017017096.1:c.844C>T | XP_016872585.1:p.Arg282Cys | |
| XM_017017097.1:c.844C>T | XP_016872586.1:p.Arg282Cys | |
| XR_001747729.1:n.974C>T | ||
| XR_002957117.1:n.974C>T | ||
| NM_006389.5:c.844C>T MANE Select | NP_006380.1:p.Arg282Cys | |
| NM_001130991.3:c.844C>T | NP_001124463.1:p.Arg282Cys |