Linked Data
ClinVar Variation Id:
155824
dbSNP Id:
rs151282801
ExAC:
10:69955255 C / T
gnomAD v2:
10-69955255-C-T
gnomAD v3:
10-68195498-C-T
gnomAD v4:
10-68195498-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.68195498C>T , CM000672.2:g.68195498C>T | GRCh38 |
| NC_000010.10:g.69955255C>T , CM000672.1:g.69955255C>T | GRCh37 |
| NC_000010.9:g.69625261C>T | NCBI36 |
| NG_032118.1:g.94382C>T , LRG_410:g.94382C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000354393.7:c.2299C>T | ENSP00000346369.2:p.Arg767Cys | |
| ENST00000540630.6:c.3178C>T | ENSP00000441668.3:p.Arg1060Cys | |
| ENST00000613327.5:c.3124C>T | ENSP00000480757.2:p.Arg1042Cys | |
| ENST00000688812.1:c.*387C>T | ENSP00000510658.1:n.*387C>T | |
| ENST00000690544.1:c.*2395C>T | ENSP00000508989.1:n.*2395C>T | |
| ENST00000358913.10:c.3124C>T MANE Select | ENSP00000351790.5:p.Arg1042Cys | |
| ENST00000354393.6:c.2299C>T | ENSP00000346369.2:p.Arg767Cys | |
| ENST00000358913.9:c.3124C>T | ENSP00000351790.5:p.Arg1042Cys | |
| ENST00000540630.5:c.3124C>T | ENSP00000441668.2:p.Arg1042Cys | |
| ENST00000613327.4:c.2242C>T | ENSP00000480757.1:p.Arg748Cys | |
| NM_001256267.1:c.3124C>T | NP_001243196.1:p.Arg1042Cys | |
| NM_001256268.1:c.2242C>T | NP_001243197.1:p.Arg748Cys | |
| NM_032578.3:c.3124C>T , LRG_410t1:c.3124C>T | NP_115967.2:p.Arg1042Cys | |
| NR_045662.3:n.2551C>T | ||
| NR_045663.3:n.3253C>T | ||
| XM_006718043.2:c.3178C>T | XP_006718106.1:p.Arg1060Cys | |
| XM_011540292.1:c.3154C>T | XP_011538594.1:p.Arg1052Cys | |
| XM_017016833.1:c.3202C>T | XP_016872322.1:p.Arg1068Cys | |
| XM_017016834.2:c.3124C>T | XP_016872323.1:p.Arg1042Cys | |
| XM_024448236.1:c.2002C>T | XP_024304004.1:p.Arg668Cys | |
| NR_045662.4:n.2661C>T | ||
| NR_045663.4:n.3198C>T | ||
| NM_001256267.2:c.3124C>T | NP_001243196.1:p.Arg1042Cys | |
| NM_001256268.2:c.2242C>T | NP_001243197.1:p.Arg748Cys | |
| NM_032578.4:c.3124C>T MANE Select | NP_115967.2:p.Arg1042Cys |