Linked Data
ClinVar Variation Id:
1798151
dbSNP Id:
rs748088627
ExAC:
11:74168314 G / A
gnomAD v2:
11-74168314-G-A
gnomAD v4:
11-74457269-G-A
COSMIC:
COSM4574793
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74457269G>A , CM000673.2:g.74457269G>A | GRCh38 |
| NC_000011.9:g.74168314G>A , CM000673.1:g.74168314G>A | GRCh37 |
| NC_000011.8:g.73845962G>A | NCBI36 |
| NG_011833.1:g.15287C>T , LRG_439:g.15287C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310128.9:c.295C>T MANE Select | ENSP00000310557.4:p.Arg99Cys | |
| ENST00000310128.8:c.295C>T | ENSP00000310557.4:p.Arg99Cys | |
| ENST00000525550.1:c.295C>T | ENSP00000433633.1:p.Arg99Cys | |
| ENST00000532569.5:c.295C>T | ENSP00000431739.1:p.Arg99Cys | |
| NM_005472.4:c.295C>T , LRG_439t1:c.295C>T | NP_005463.1:p.Arg99Cys | |
| XM_011544713.1:c.427C>T | XP_011543015.1:p.Arg143Cys | |
| XM_011544713.2:c.427C>T | XP_011543015.1:p.Arg143Cys | |
| XM_017017047.1:c.295C>T | XP_016872536.1:p.Arg99Cys | |
| XM_017017048.1:c.295C>T | XP_016872537.1:p.Arg99Cys | |
| XM_017017049.1:c.295C>T | XP_016872538.1:p.Arg99Cys | |
| XM_017017051.2:c.295C>T | XP_016872540.1:p.Arg99Cys | |
| XM_017017052.1:c.295C>T | XP_016872541.1:p.Arg99Cys | |
| NM_005472.5:c.295C>T MANE Select | NP_005463.1:p.Arg99Cys |