Linked Data
ClinVar Variation Id:
1254038
ClinVar RCV Id:
RCV001665182
dbSNP Id:
rs752568854
ExAC:
6:76623854 C / T
gnomAD v2:
6-76623854-C-T
gnomAD v3:
6-75914137-C-T
gnomAD v4:
6-75914137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.75914137C>T , CM000668.2:g.75914137C>T | GRCh38 |
| NC_000006.11:g.76623854C>T , CM000668.1:g.76623854C>T | GRCh37 |
| NC_000006.10:g.76680574C>T | NCBI36 |
| NG_009934.1:g.169946C>T | |
| NG_009934.2:g.169945C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369975.6:c.3418C>T | ENSP00000358992.1:p.Arg1140Cys | |
| ENST00000369977.8:c.3514C>T MANE Select | ENSP00000358994.3:p.Arg1172Cys | |
| ENST00000369985.9:c.3445C>T | ENSP00000359002.3:p.Arg1149Cys | |
| ENST00000664640.1:c.3541C>T | ENSP00000499278.1:p.Arg1181Cys | |
| ENST00000671923.1:c.*1525C>T | ENSP00000500835.1:n.*1525C>T | |
| ENST00000672093.1:c.3514C>T | ENSP00000500710.1:p.Arg1172Cys | |
| ENST00000672162.1:n.1680C>T | ||
| ENST00000369975.5:c.3418C>T | ENSP00000358992.1:p.Arg1140Cys | |
| ENST00000369977.7:c.3514C>T | ENSP00000358994.3:p.Arg1172Cys | |
| ENST00000369981.7:c.3544C>T | ENSP00000358998.4:p.Arg1182Cys | |
| ENST00000369985.8:c.3445C>T | ENSP00000359002.3:p.Arg1149Cys | |
| ENST00000615563.4:c.3445C>T | ENSP00000478013.1:p.Arg1149Cys | |
| ENST00000627432.2:c.3541C>T | ENSP00000487348.1:p.Arg1181Cys | |
| NM_001300899.1:c.3445C>T | NP_001287828.1:p.Arg1149Cys | |
| NM_004999.3:c.3514C>T | NP_004990.3:p.Arg1172Cys | |
| XM_005248719.2:c.3541C>T | XP_005248776.1:p.Arg1181Cys | |
| XM_005248720.2:c.3514C>T | XP_005248777.1:p.Arg1172Cys | |
| XM_005248721.2:c.3502C>T | XP_005248778.1:p.Arg1168Cys | |
| XM_005248722.2:c.3487C>T | XP_005248779.1:p.Arg1163Cys | |
| XM_005248724.2:c.3475C>T | XP_005248781.1:p.Arg1159Cys | |
| XM_005248726.2:c.3418C>T | XP_005248783.1:p.Arg1140Cys | |
| XM_005248719.4:c.3541C>T | XP_005248776.1:p.Arg1181Cys | |
| XM_005248720.4:c.3514C>T | XP_005248777.1:p.Arg1172Cys | |
| XM_005248721.4:c.3502C>T | XP_005248778.1:p.Arg1168Cys | |
| XM_005248722.4:c.3487C>T | XP_005248779.1:p.Arg1163Cys | |
| XM_005248724.4:c.3475C>T | XP_005248781.1:p.Arg1159Cys | |
| XM_005248726.4:c.3418C>T | XP_005248783.1:p.Arg1140Cys | |
| XM_017010899.2:c.3448C>T | XP_016866388.1:p.Arg1150Cys | |
| XM_024446447.1:c.3541C>T | XP_024302215.1:p.Arg1181Cys | |
| XM_024446448.1:c.3475C>T | XP_024302216.1:p.Arg1159Cys | |
| NM_004999.4:c.3514C>T MANE Select | NP_004990.3:p.Arg1172Cys | |
| NM_001300899.2:c.3445C>T | NP_001287828.1:p.Arg1149Cys | |
| NM_001368136.1:c.3418C>T | NP_001355065.1:p.Arg1140Cys | |
| NM_001368137.1:c.3475C>T | NP_001355066.1:p.Arg1159Cys | |
| NM_001368138.1:c.3430C>T | NP_001355067.1:p.Arg1144Cys | |
| NM_001368865.1:c.3541C>T | NP_001355794.1:p.Arg1181Cys | |
| NM_001368866.1:c.3514C>T | NP_001355795.1:p.Arg1172Cys | |
| NR_160538.1:n.3743C>T |