Linked Data
ClinVar Variation Id:
737
dbSNP Id:
rs121918138
ExAC:
6:150710610 C / T
gnomAD v2:
6-150710610-C-T
gnomAD v3:
6-150389474-C-T
gnomAD v4:
6-150389474-C-T
PubMed:
PMID:18434651
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.150389474C>T , CM000668.2:g.150389474C>T | GRCh38 |
| NC_000006.11:g.150710610C>T , CM000668.1:g.150710610C>T | GRCh37 |
| NC_000006.10:g.150752303C>T | NCBI36 |
| NG_016007.1:g.25583C>T | |
| NG_016007.2:g.25583C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000344419.8:c.301C>T MANE Select | ENSP00000343763.4:p.Arg101Trp | |
| ENST00000229447.9:c.301C>T | ENSP00000229447.5:p.Arg101Trp | |
| ENST00000344419.7:c.301C>T | ENSP00000343763.3:p.Arg101Trp | |
| ENST00000367335.7:c.301C>T | ENSP00000356304.3:p.Arg101Trp | |
| ENST00000392255.7:c.301C>T | ENSP00000376084.3:p.Arg101Trp | |
| ENST00000392256.6:c.301C>T | ENSP00000376085.2:p.Arg101Trp | |
| ENST00000422583.2:c.178C>T | ENSP00000397342.2:p.Arg60Trp | |
| ENST00000425615.3:c.136C>T | ENSP00000390081.3:p.Arg46Trp | |
| ENST00000500320.7:c.301C>T | ENSP00000441276.1:p.Arg101Trp | |
| ENST00000546121.1:n.244C>T | ||
| NM_001164694.1:c.301C>T | NP_001158166.1:p.Arg101Trp | |
| NM_001164695.1:c.301C>T | NP_001158167.1:p.Arg101Trp | |
| NM_203395.2:c.301C>T | NP_981932.1:p.Arg101Trp | |
| XM_006715478.2:c.301C>T | XP_006715541.1:p.Arg101Trp | |
| XM_006715479.2:c.136C>T | XP_006715542.1:p.Arg46Trp | |
| XR_245516.3:n.464C>T | ||
| NM_001318495.1:c.123C>T | NP_001305424.1:p.Asp41= | |
| NR_134655.1:n.441C>T | ||
| XM_006715478.3:c.301C>T | XP_006715541.1:p.Arg101Trp | |
| XM_006715479.3:c.136C>T | XP_006715542.1:p.Arg46Trp | |
| NM_001164694.2:c.301C>T | NP_001158166.1:p.Arg101Trp | |
| NM_001164695.2:c.301C>T | NP_001158167.1:p.Arg101Trp | |
| NM_001318495.2:c.123C>T | NP_001305424.1:p.Asp41= | |
| NM_203395.3:c.301C>T MANE Select | NP_981932.1:p.Arg101Trp | |
| NR_134655.2:n.321C>T |