Linked Data
ClinVar Variation Id:
1632880
ClinVar RCV Id:
RCV002119341
dbSNP Id:
rs117396201
ExAC:
10:30728042 C / T
gnomAD v2:
10-30728042-C-T
gnomAD v3:
10-30439113-C-T
gnomAD v4:
10-30439113-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30439113C>T , CM000672.2:g.30439113C>T | GRCh38 |
| NC_000010.10:g.30728042C>T , CM000672.1:g.30728042C>T | GRCh37 |
| NC_000010.9:g.30768048C>T | NCBI36 |
| NG_029984.1:g.10093C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263056.6:c.175C>T MANE Select | ENSP00000263056.1:p.Arg59Cys | |
| ENST00000263056.5:c.175C>T | ENSP00000263056.1:p.Arg59Cys | |
| ENST00000375321.1:c.175C>T | ENSP00000364470.1:p.Arg59Cys | |
| ENST00000375322.2:c.175C>T | ENSP00000364471.1:p.Arg59Cys | |
| ENST00000413724.5:c.175C>T | ENSP00000391275.1:p.Arg59Cys | |
| ENST00000415139.5:c.175C>T | ENSP00000409653.1:p.Arg59Cys | |
| ENST00000542547.5:c.175C>T | ENSP00000443610.1:p.Arg59Cys | |
| NM_001244134.1:c.175C>T | NP_001231063.1:p.Arg59Cys | |
| NM_005204.3:c.175C>T | NP_005195.2:p.Arg59Cys | |
| XM_005252364.2:c.175C>T | XP_005252421.2:p.Arg59Cys | |
| XM_011519308.1:c.490C>T | XP_011517610.1:p.Arg164Cys | |
| XM_011519309.1:c.423+4365C>T | XP_011517611.1:n.423+4365C>T | |
| XM_011519310.1:c.175C>T | XP_011517612.1:p.Arg59Cys | |
| XM_011519311.1:c.175C>T | XP_011517613.1:p.Arg59Cys | |
| XM_011519312.1:c.175C>T | XP_011517614.1:p.Arg59Cys | |
| XM_011519313.1:c.175C>T | XP_011517615.1:p.Arg59Cys | |
| XM_011519314.1:c.175C>T | XP_011517616.1:p.Arg59Cys | |
| XM_011519315.1:c.175C>T | XP_011517617.1:p.Arg59Cys | |
| NM_001320961.1:c.175C>T | NP_001307890.1:p.Arg59Cys | |
| XM_017015708.1:c.175C>T | XP_016871197.1:p.Arg59Cys | |
| XM_017015709.2:c.175C>T | XP_016871198.1:p.Arg59Cys | |
| XM_017015710.1:c.175C>T | XP_016871199.1:p.Arg59Cys | |
| XM_017015711.2:c.-3677C>T | XP_016871200.1:n.-3677C>T | |
| XM_017015712.1:c.-3677C>T | XP_016871201.1:n.-3677C>T | |
| XM_017015713.1:c.-3677C>T | XP_016871202.1:n.-3677C>T | |
| XM_017015714.1:c.-3677C>T | XP_016871203.1:n.-3677C>T | |
| XM_024447819.1:c.-3677C>T | XP_024303587.1:n.-3677C>T | |
| NM_005204.4:c.175C>T MANE Select | NP_005195.2:p.Arg59Cys | |
| NM_001320961.2:c.175C>T | NP_001307890.1:p.Arg59Cys |