Linked Data
ClinVar Variation Id:
143159
dbSNP Id:
rs527236131
gnomAD v2:
5-90106813-C-T
gnomAD v3:
5-90810996-C-T
gnomAD v4:
5-90810996-C-T
COSMIC:
COSM1208756
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90810996C>T , CM000667.2:g.90810996C>T | GRCh38 |
| NC_000005.9:g.90106813C>T , CM000667.1:g.90106813C>T | GRCh37 |
| NC_000005.8:g.90142569C>T | NCBI36 |
| NG_007083.1:g.257197C>T | |
| NG_007083.2:g.286653C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000405460.9:c.15736C>T MANE Select | ENSP00000384582.2:p.Arg5246Ter | |
| ENST00000425867.3:c.4690C>T | ENSP00000392618.3:p.Arg1564Ter | |
| ENST00000638510.1:n.3003C>T | ||
| ENST00000639431.1:c.265+134787C>T | ENSP00000491057.1:n.265+134787C>T | |
| ENST00000640407.1:c.2146C>T | ENSP00000491425.1:p.Arg716Ter | |
| ENST00000405460.6:c.15736C>T | ENSP00000384582.2:p.Arg5246Ter | |
| ENST00000425867.2:c.2719C>T | ENSP00000392618.2:p.Arg907Ter | |
| NM_032119.3:c.15736C>T | NP_115495.3:p.Arg5246Ter | |
| NR_003149.1:n.15749C>T | ||
| XM_011543675.1:c.15733C>T | XP_011541977.1:p.Arg5245Ter | |
| XM_011543676.1:c.15655C>T | XP_011541978.1:p.Arg5219Ter | |
| XM_011543677.1:c.13039C>T | XP_011541979.1:p.Arg4347Ter | |
| NM_032119.4:c.15736C>T MANE Select | NP_115495.3:p.Arg5246Ter | |
| XM_017009963.2:c.15757C>T | XP_016865452.1:p.Arg5253Ter | |
| XM_017009964.2:c.15754C>T | XP_016865453.1:p.Arg5252Ter | |
| XM_017009965.1:c.15754C>T | XP_016865454.1:p.Arg5252Ter | |
| XM_017009966.2:c.15676C>T | XP_016865455.1:p.Arg5226Ter | |
| XM_017009967.1:c.15661C>T | XP_016865456.1:p.Arg5221Ter | |
| XM_017009968.2:c.15577C>T | XP_016865457.1:p.Arg5193Ter | |
| XM_017009969.2:c.15757C>T | XP_016865458.1:p.Arg5253Ter | |
| XM_017009972.1:c.8875C>T | XP_016865461.1:p.Arg2959Ter | |
| XM_017009973.1:c.8854C>T | XP_016865462.1:p.Arg2952Ter | |
| NR_003149.2:n.15752C>T |