Linked Data
ClinVar Variation Id:
14559
ClinVar RCV Id:
RCV002051626
dbSNP Id:
rs118203901
gnomAD v2:
1-183191316-C-T
gnomAD v3:
1-183222181-C-T
gnomAD v4:
1-183222181-C-T
PubMed:
PMID:11810295
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.183222181C>T , CM000663.2:g.183222181C>T | GRCh38 |
| NC_000001.10:g.183191316C>T , CM000663.1:g.183191316C>T | GRCh37 |
| NC_000001.9:g.181457939C>T | NCBI36 |
| NG_007079.2:g.40918C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264144.5:c.733C>T MANE Select | ENSP00000264144.4:p.Arg245Ter | |
| ENST00000264144.4:c.733C>T | ENSP00000264144.4:p.Arg245Ter | |
| ENST00000493293.5:c.733C>T | ENSP00000432063.1:p.Arg245Ter | |
| NM_005562.2:c.733C>T | NP_005553.2:p.Arg245Ter | |
| NM_018891.2:c.733C>T | NP_061486.2:p.Arg245Ter | |
| XM_017001273.2:c.733C>T | XP_016856762.1:p.Arg245Ter | |
| NM_005562.3:c.733C>T MANE Select | NP_005553.2:p.Arg245Ter | |
| NM_018891.3:c.733C>T | NP_061486.2:p.Arg245Ter |