Linked Data
ClinVar Variation Id:
41201
ClinVar RCV Id:
RCV000034100
dbSNP Id:
rs267606573
PubMed:
PMID:22720333
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.67490391A>T , CM000673.2:g.67490391A>T | GRCh38 |
| NC_000011.9:g.67257862A>T , CM000673.1:g.67257862A>T | GRCh37 |
| NC_000011.8:g.67014438A>T | NCBI36 |
| NG_008969.1:g.12358A>T , LRG_460:g.12358A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000525341.2:c.698A>T | ||
| ENST00000528641.7:c.532A>T | ENSP00000434982.3:p.Lys178Ter | |
| ENST00000529797.2:n.1233A>T | ||
| ENST00000682324.1:c.469-606A>T | ENSP00000508017.1:n.469-606A>T | |
| ENST00000682659.1:c.352A>T | ENSP00000507351.1:p.Lys118Ter | |
| ENST00000682699.1:c.721A>T | ENSP00000507935.1:p.Lys241Ter | |
| ENST00000683237.1:c.721A>T | ENSP00000507343.1:p.Lys241Ter | |
| ENST00000683856.1:c.544A>T | ENSP00000507979.1:p.Lys182Ter | |
| ENST00000684006.1:c.721A>T | ENSP00000507269.1:p.Lys241Ter | |
| ENST00000684657.1:c.541A>T | ENSP00000507961.1:p.Lys181Ter | |
| ENST00000279146.8:c.721A>T MANE Select | ENSP00000279146.3:p.Lys241Ter | |
| ENST00000279146.7:c.721A>T | ENSP00000279146.3:p.Lys241Ter | |
| ENST00000525341.1:c.373A>T | ENSP00000476993.1:p.Lys125Ter | |
| ENST00000528641.6:c.532A>T | ENSP00000434982.2:p.Lys178Ter | |
| NM_001302959.1:c.544A>T | NP_001289888.1:p.Lys182Ter | |
| NM_001302960.1:c.721A>T | NP_001289889.1:p.Lys241Ter | |
| NM_003977.3:c.721A>T | NP_003968.3:p.Lys241Ter | |
| XM_024448761.1:c.721A>T | XP_024304529.1:p.Lys241Ter | |
| NM_003977.4:c.721A>T MANE Select | NP_003968.3:p.Lys241Ter | |
| NM_001302960.2:c.721A>T | NP_001289889.1:p.Lys241Ter | |
| NM_001302959.2:c.544A>T | NP_001289888.1:p.Lys182Ter |