Linked Data
ClinVar Variation Id:
947053
dbSNP Id:
rs201611101
ExAC:
5:147486618 C / T
gnomAD v2:
5-147486618-C-T
gnomAD v3:
5-148107055-C-T
gnomAD v4:
5-148107055-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148107055C>T , CM000667.2:g.148107055C>T | GRCh38 |
| NC_000005.9:g.147486618C>T , CM000667.1:g.147486618C>T | GRCh37 |
| NC_000005.8:g.147466811C>T | NCBI36 |
| NG_009633.1:g.48084C>T , LRG_110:g.48084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000481286.6:n.1107C>T | ||
| ENST00000256084.8:c.1498C>T MANE Select | ENSP00000256084.7:p.Arg500Trp | |
| ENST00000256084.7:c.1498C>T | ENSP00000256084.7:p.Arg500Trp | |
| ENST00000359874.7:c.1498C>T | ENSP00000352936.3:p.Arg500Trp | |
| ENST00000398454.5:c.1498C>T | ENSP00000381472.1:p.Arg500Trp | |
| ENST00000507988.5:n.1662C>T | ||
| ENST00000508733.5:c.1441C>T | ENSP00000421519.1:p.Arg481Trp | |
| NM_001127698.1:c.1498C>T | NP_001121170.1:p.Arg500Trp | |
| NM_001127699.1:c.1498C>T | NP_001121171.1:p.Arg500Trp | |
| NM_006846.3:c.1498C>T , LRG_110t1:c.1498C>T | NP_006837.2:p.Arg500Trp | |
| XM_011537550.1:c.1441C>T | XP_011535852.1:p.Arg481Trp | |
| XM_011537551.1:c.1414C>T | XP_011535853.1:p.Arg472Trp | |
| XM_011537551.2:c.1414C>T | XP_011535853.1:p.Arg472Trp | |
| NM_001127698.2:c.1498C>T | NP_001121170.1:p.Arg500Trp | |
| NM_001127699.2:c.1498C>T | NP_001121171.1:p.Arg500Trp | |
| NM_006846.4:c.1498C>T MANE Select | NP_006837.2:p.Arg500Trp |