Linked Data
dbSNP Id:
rs782126313
ExAC:
X:48650870 C / T
gnomAD v2:
X-48650870-C-T
gnomAD v3:
X-48792463-C-T
gnomAD v4:
X-48792463-C-T
COSMIC:
COSM1122172
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.48792463C>T , CM000685.2:g.48792463C>T | GRCh38 |
| NC_000023.10:g.48650870C>T , CM000685.1:g.48650870C>T | GRCh37 |
| NC_000023.9:g.48535814C>T | NCBI36 |
| NG_008846.2:g.10890C>T , LRG_559:g.10890C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000651144.2:c.490C>T | ENSP00000498550.1:p.Arg164Cys | |
| ENST00000696450.1:c.739C>T | ENSP00000512637.1:p.Arg247Cys | |
| ENST00000696451.1:c.490C>T | ENSP00000512638.1:p.Arg164Cys | |
| ENST00000696452.1:c.490C>T | ENSP00000512639.1:p.Arg164Cys | |
| ENST00000376670.9:c.739C>T MANE Select | ENSP00000365858.3:p.Arg247Cys | |
| ENST00000651144.1:c.490C>T | ENSP00000498550.1:p.Arg164Cys | |
| ENST00000376665.4:c.739C>T | ENSP00000365853.3:p.Arg247Cys | |
| ENST00000376670.7:c.739C>T | ENSP00000365858.3:p.Arg247Cys | |
| NM_002049.3:c.739C>T , LRG_559t1:c.739C>T | NP_002040.1:p.Arg247Cys | |
| XM_011543897.1:c.739C>T | XP_011542199.1:p.Arg247Cys | |
| XM_011543898.1:c.490C>T | XP_011542200.1:p.Arg164Cys | |
| XM_011543897.2:c.739C>T | XP_011542199.1:p.Arg247Cys | |
| XM_011543898.2:c.490C>T | XP_011542200.1:p.Arg164Cys | |
| XM_024452363.1:c.490C>T | XP_024308131.1:p.Arg164Cys | |
| NM_002049.4:c.739C>T MANE Select | NP_002040.1:p.Arg247Cys |