Linked Data
ClinVar Variation Id:
435618
dbSNP Id:
rs764577786
ExAC:
1:200522681 C / G
gnomAD v2:
1-200522681-C-G
gnomAD v3:
1-200553553-C-G
gnomAD v4:
1-200553553-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.200553553C>G , CM000663.2:g.200553553C>G | GRCh38 |
| NC_000001.10:g.200522681C>G , CM000663.1:g.200522681C>G | GRCh37 |
| NC_000001.9:g.198789304C>G | NCBI36 |
| NG_042074.1:g.72182G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367350.5:c.4782G>C MANE Select | ENSP00000356319.4:p.Trp1594Cys | |
| ENST00000367350.4:c.4782G>C | ENSP00000356319.4:p.Trp1594Cys | |
| ENST00000614960.4:c.4782G>C | ENSP00000483069.1:p.Trp1594Cys | |
| NM_001305792.1:c.3309G>C | NP_001292721.1:p.Trp1103Cys | |
| NM_014875.2:c.4782G>C | NP_055690.1:p.Trp1594Cys | |
| XM_011510230.1:c.4782G>C | XP_011508532.1:p.Trp1594Cys | |
| XM_011510231.1:c.4782G>C | XP_011508533.1:p.Trp1594Cys | |
| XM_011510232.1:c.4782G>C | XP_011508534.1:p.Trp1594Cys | |
| XM_011510233.1:c.4698G>C | XP_011508535.1:p.Trp1566Cys | |
| XM_011510234.1:c.4683G>C | XP_011508536.1:p.Trp1561Cys | |
| XM_011510235.1:c.4410G>C | XP_011508537.1:p.Trp1470Cys | |
| XM_011510236.1:c.3309G>C | XP_011508538.1:p.Trp1103Cys | |
| XM_011510231.2:c.4782G>C | XP_011508533.1:p.Trp1594Cys | |
| XM_011510232.2:c.4782G>C | XP_011508534.1:p.Trp1594Cys | |
| XM_011510233.2:c.4698G>C | XP_011508535.1:p.Trp1566Cys | |
| XM_011510235.2:c.4410G>C | XP_011508537.1:p.Trp1470Cys | |
| XM_017003005.1:c.4782G>C | XP_016858494.1:p.Trp1594Cys | |
| XM_017003006.1:c.4653G>C | XP_016858495.1:p.Trp1551Cys | |
| XM_017003007.1:c.4215G>C | XP_016858496.1:p.Trp1405Cys | |
| NM_014875.3:c.4782G>C MANE Select | NP_055690.1:p.Trp1594Cys |