Linked Data
ClinVar Variation Id:
257654
dbSNP Id:
rs2076584
ExAC:
20:19970705 C / T
gnomAD v2:
20-19970705-C-T
gnomAD v3:
20-19990061-C-T
gnomAD v4:
20-19990061-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.19990061C>T , CM000682.2:g.19990061C>T | GRCh38 |
| NC_000020.10:g.19970705C>T , CM000682.1:g.19970705C>T | GRCh37 |
| NC_000020.9:g.19918705C>T | NCBI36 |
| NG_016310.1:g.105496C>T | |
| NG_016310.2:g.105496C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255006.12:c.1818C>T MANE Select | ENSP00000255006.7:p.His606= | |
| ENST00000648440.1:c.1818C>T | ENSP00000498085.1:p.His606= | |
| ENST00000255006.10:c.1965C>T | ENSP00000255006.6:p.His655= | |
| ENST00000440354.2:c.519C>T | ENSP00000391239.2:p.His173= | |
| ENST00000484638.1:n.1662C>T | ||
| NM_001242581.1:c.1965C>T | NP_001229510.1:p.His655= | |
| NM_018993.3:c.1818C>T | NP_061866.1:p.His606= | |
| XM_005260731.2:c.1818C>T | XP_005260788.1:p.His606= | |
| XM_005260732.2:c.1683C>T | XP_005260789.1:p.His561= | |
| XM_005260733.2:c.1200C>T | XP_005260790.1:p.His400= | |
| XM_006723574.2:c.1818C>T | XP_006723637.1:p.His606= | |
| XM_006723575.2:c.1818C>T | XP_006723638.1:p.His606= | |
| XM_006723577.2:c.1818C>T | XP_006723640.1:p.His606= | |
| XM_011529255.1:c.1914C>T | XP_011527557.1:p.His638= | |
| XM_011529256.1:c.1974C>T | XP_011527558.1:p.His658= | |
| XM_011529257.1:c.1818C>T | XP_011527559.1:p.His606= | |
| XM_011529258.1:c.1818C>T | XP_011527560.1:p.His606= | |
| XM_011529259.1:c.1659C>T | XP_011527561.1:p.His553= | |
| XM_006723574.4:c.1818C>T | XP_006723637.1:p.His606= | |
| XM_006723575.4:c.1818C>T | XP_006723638.1:p.His606= | |
| XM_011529255.2:c.2019C>T | XP_011527557.2:p.His673= | |
| XM_011529257.2:c.1818C>T | XP_011527559.1:p.His606= | |
| XM_011529258.2:c.1818C>T | XP_011527560.1:p.His606= | |
| XM_011529259.2:c.1659C>T | XP_011527561.1:p.His553= | |
| XM_017027887.1:c.1965C>T | XP_016883376.1:p.His655= | |
| XM_017027888.1:c.1965C>T | XP_016883377.1:p.His655= | |
| XM_017027889.1:c.1908C>T | XP_016883378.1:p.His636= | |
| XM_017027890.1:c.1818C>T | XP_016883379.1:p.His606= | |
| XM_017027891.1:c.1683C>T | XP_016883380.1:p.His561= | |
| XM_017027892.1:c.1659C>T | XP_016883381.1:p.His553= | |
| XM_024451911.1:c.1818C>T | XP_024307679.1:p.His606= | |
| XM_024451912.1:c.1818C>T | XP_024307680.1:p.His606= | |
| XM_024451913.1:c.1818C>T | XP_024307681.1:p.His606= | |
| NM_001242581.2:c.1965C>T | NP_001229510.1:p.His655= | |
| NM_001378238.1:c.1200C>T | NP_001365167.1:p.His400= | |
| NM_018993.4:c.1818C>T MANE Select | NP_061866.1:p.His606= |