Linked Data
ClinVar Variation Id:
2197559
dbSNP Id:
rs932851648
gnomAD v2:
4-5713261-C-T
gnomAD v3:
4-5711534-C-T
gnomAD v4:
4-5711534-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.5711534C>T , CM000666.2:g.5711534C>T | GRCh38 |
| NC_000004.11:g.5713261C>T , CM000666.1:g.5713261C>T | GRCh37 |
| NC_000004.10:g.5764162C>T | NCBI36 |
| NG_008843.1:g.5338C>T | |
| NG_015821.1:g.3015G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264956.11:c.154C>T MANE Select | ENSP00000264956.6:p.Arg52Cys | |
| ENST00000264956.10:c.154C>T | ENSP00000264956.6:p.Arg52Cys | |
| ENST00000509451.1:c.154C>T | ENSP00000426774.1:p.Arg52Cys | |
| NM_001306090.1:c.154C>T | NP_001293019.1:p.Arg52Cys | |
| NM_001306092.1:c.154C>T | NP_001293021.1:p.Arg52Cys | |
| NM_153717.2:c.154C>T | NP_714928.1:p.Arg52Cys | |
| XM_006713865.2:c.154C>T | XP_006713928.1:p.Arg52Cys | |
| XM_006713866.2:c.154C>T | XP_006713929.1:p.Arg52Cys | |
| XM_011513419.1:c.154C>T | XP_011511721.1:p.Arg52Cys | |
| XR_427473.2:n.344C>T | ||
| XR_427475.2:n.344C>T | ||
| XR_427476.2:n.344C>T | ||
| XR_924920.1:n.344C>T | ||
| XR_924921.1:n.344C>T | ||
| XR_924922.1:n.344C>T | ||
| XR_924923.1:n.344C>T | ||
| XR_924924.1:n.344C>T | ||
| XR_924925.1:n.344C>T | ||
| XR_924926.1:n.344C>T | ||
| XR_924927.1:n.344C>T | ||
| XR_924928.1:n.346C>T | ||
| XM_006713865.3:c.154C>T | XP_006713928.1:p.Arg52Cys | |
| XM_006713866.3:c.154C>T | XP_006713929.1:p.Arg52Cys | |
| XM_011513419.2:c.154C>T | XP_011511721.1:p.Arg52Cys | |
| XM_017007883.2:c.154C>T | XP_016863372.1:p.Arg52Cys | |
| XR_001741164.1:n.334C>T | ||
| XR_001741165.1:n.334C>T | ||
| XR_001741166.1:n.334C>T | ||
| XR_001741167.1:n.334C>T | ||
| XR_001741168.1:n.334C>T | ||
| XR_001741169.2:n.336C>T | ||
| XR_001741170.1:n.336C>T | ||
| XR_427473.3:n.334C>T | ||
| XR_427475.3:n.334C>T | ||
| XR_427476.3:n.334C>T | ||
| XR_924920.2:n.334C>T | ||
| XR_924921.2:n.334C>T | ||
| XR_924922.2:n.334C>T | ||
| XR_924924.2:n.334C>T | ||
| XR_924925.2:n.334C>T | ||
| XR_924926.2:n.334C>T | ||
| NM_153717.3:c.154C>T MANE Select | NP_714928.1:p.Arg52Cys | |
| NM_001306090.2:c.154C>T | NP_001293019.1:p.Arg52Cys | |
| NM_001306092.2:c.154C>T | NP_001293021.1:p.Arg52Cys |