Linked Data
ClinVar Variation Id:
198640
dbSNP Id:
rs370074117
ExAC:
10:73574991 C / T
gnomAD v2:
10-73574991-C-T
gnomAD v3:
10-71815234-C-T
gnomAD v4:
10-71815234-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.71815234C>T , CM000672.2:g.71815234C>T | GRCh38 |
| NC_000010.10:g.73574991C>T , CM000672.1:g.73574991C>T | GRCh37 |
| NC_000010.9:g.73244997C>T | NCBI36 |
| NG_008835.1:g.423288C>T | |
| NG_009301.1:g.41092G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000224721.12:c.10021C>T MANE Select | ENSP00000224721.9:p.Arg3341Cys | |
| ENST00000642965.1:c.3954C>T | ENSP00000495222.1:n.3954C>T | |
| ENST00000647092.1:c.3513C>T | ENSP00000495176.1:n.3513C>T | |
| ENST00000224721.10:c.10036C>T | ENSP00000224721.8:p.Arg3346Cys | |
| ENST00000398788.4:c.3301C>T | ENSP00000381768.3:p.Arg1101Cys | |
| ENST00000475158.1:n.3452C>T | ||
| ENST00000619887.4:c.3196C>T | ENSP00000478374.1:p.Arg1066Cys | |
| ENST00000622827.4:c.10021C>T | ENSP00000483211.1:p.Arg3341Cys | |
| NM_001171933.1:c.3301C>T | NP_001165404.1:p.Arg1101Cys | |
| NM_001171934.1:c.3196C>T | NP_001165405.1:p.Arg1066Cys | |
| NM_001171935.1:c.712C>T | NP_001165406.1:p.Arg238Cys | |
| NM_001171936.1:c.607C>T | NP_001165407.1:p.Arg203Cys | |
| NM_022124.5:c.10021C>T | NP_071407.4:p.Arg3341Cys | |
| XM_006717940.2:c.10216C>T | XP_006718003.1:p.Arg3406Cys | |
| XM_006717942.2:c.10150C>T | XP_006718005.1:p.Arg3384Cys | |
| XM_011540039.1:c.10213C>T | XP_011538341.1:p.Arg3405Cys | |
| XM_011540040.1:c.10210C>T | XP_011538342.1:p.Arg3404Cys | |
| XM_011540041.1:c.10156C>T | XP_011538343.1:p.Arg3386Cys | |
| XM_011540042.1:c.10126C>T | XP_011538344.1:p.Arg3376Cys | |
| XM_011540043.1:c.10111C>T | XP_011538345.1:p.Arg3371Cys | |
| XM_011540044.1:c.10081C>T | XP_011538346.1:p.Arg3361Cys | |
| XM_011540046.1:c.9676C>T | XP_011538348.1:p.Arg3226Cys | |
| XM_011540047.1:c.9034C>T | XP_011538349.1:p.Arg3012Cys | |
| XM_011540052.1:c.6544C>T | XP_011538354.1:p.Arg2182Cys | |
| NM_022124.6:c.10021C>T MANE Select | NP_071407.4:p.Arg3341Cys |