Linked Data
ClinVar Variation Id:
161827
ClinVar RCV Id:
RCV000149363
dbSNP Id:
rs193921078
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.65954262G>T , CM000669.2:g.65954262G>T | GRCh38 |
| NC_000007.13:g.65419249G>T , CM000669.1:g.65419249G>T | GRCh37 |
| NC_000007.12:g.65056684G>T | NCBI36 |
| NG_051954.1:g.86164G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360768.5:c.493G>T MANE Select | ENSP00000353998.2:p.Glu165Ter | |
| ENST00000648179.1:c.493G>T | ENSP00000497394.1:p.Glu165Ter | |
| ENST00000648187.1:c.634G>T | ENSP00000497458.1:p.Glu212Ter | |
| ENST00000360768.3:c.493G>T | ENSP00000353998.2:p.Glu165Ter | |
| ENST00000434382.2:c.383G>T | ENSP00000403077.2:p.Arg128Leu | |
| NM_001284342.1:c.383G>T | NP_001271271.1:p.Arg128Leu | |
| NM_173517.4:c.493G>T | NP_775788.2:p.Glu165Ter | |
| XM_011515830.1:c.457G>T | XP_011514132.1:p.Glu153Ter | |
| XM_011515831.1:c.406G>T | XP_011514133.1:p.Glu136Ter | |
| NM_001284342.2:c.383G>T | NP_001271271.1:p.Arg128Leu | |
| NM_173517.5:c.493G>T | NP_775788.2:p.Glu165Ter | |
| XM_011515831.3:c.406G>T | XP_011514133.1:p.Glu136Ter | |
| NM_173517.6:c.493G>T MANE Select | NP_775788.2:p.Glu165Ter | |
| NM_001284342.3:c.383G>T | NP_001271271.1:p.Arg128Leu |