Linked Data
ClinVar Variation Id:
503694
dbSNP Id:
rs747622607
ExAC:
5:90144496 C / T
gnomAD v2:
5-90144496-C-T
gnomAD v3:
5-90848679-C-T
gnomAD v4:
5-90848679-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90848679C>T , CM000667.2:g.90848679C>T | GRCh38 |
| NC_000005.9:g.90144496C>T , CM000667.1:g.90144496C>T | GRCh37 |
| NC_000005.8:g.90180252C>T | NCBI36 |
| NG_007083.1:g.294880C>T | |
| NG_007083.2:g.324336C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.17062C>T MANE Select | ENSP00000384582.2:p.Arg5688Ter | |
| ENST00000425867.3:c.6016C>T | ENSP00000392618.3:p.Arg2006Ter | |
| ENST00000505845.2:n.253C>T | ||
| ENST00000638510.1:n.4329C>T | ||
| ENST00000638990.1:c.83C>T | ||
| ENST00000639431.1:c.266-136665C>T | ENSP00000491057.1:n.266-136665C>T | |
| ENST00000640061.1:n.579C>T | ||
| ENST00000640407.1:c.3511C>T | ENSP00000491425.1:n.3511C>T | |
| ENST00000405460.6:c.17062C>T | ENSP00000384582.2:p.Arg5688Ter | |
| ENST00000425867.2:c.4045C>T | ENSP00000392618.2:p.Arg1349Ter | |
| ENST00000505845.1:n.253C>T | ||
| NM_032119.3:c.17062C>T | NP_115495.3:p.Arg5688Ter | |
| NR_003149.1:n.17075C>T | ||
| XM_011543675.1:c.17059C>T | XP_011541977.1:p.Arg5687Ter | |
| XM_011543676.1:c.16981C>T | XP_011541978.1:p.Arg5661Ter | |
| XM_011543677.1:c.14365C>T | XP_011541979.1:p.Arg4789Ter | |
| NM_032119.4:c.17062C>T MANE Select | NP_115495.3:p.Arg5688Ter | |
| XM_017009963.2:c.17083C>T | XP_016865452.1:p.Arg5695Ter | |
| XM_017009964.2:c.17080C>T | XP_016865453.1:p.Arg5694Ter | |
| XM_017009965.1:c.17080C>T | XP_016865454.1:p.Arg5694Ter | |
| XM_017009966.2:c.17002C>T | XP_016865455.1:p.Arg5668Ter | |
| XM_017009967.1:c.16987C>T | XP_016865456.1:p.Arg5663Ter | |
| XM_017009968.2:c.16903C>T | XP_016865457.1:p.Arg5635Ter | |
| XM_017009969.2:c.17083C>T | XP_016865458.1:p.Arg5695Ter | |
| XM_017009972.1:c.10201C>T | XP_016865461.1:p.Arg3401Ter | |
| XM_017009973.1:c.10180C>T | XP_016865462.1:p.Arg3394Ter | |
| NR_003149.2:n.17078C>T |