Linked Data
ClinVar Variation Id:
1233
ClinVar RCV Id:
RCV000001292
dbSNP Id:
rs121908283
PubMed:
PMID:17033958
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.43178184T>G , CM000670.2:g.43178184T>G | GRCh38 |
| NC_000008.10:g.43033327T>G , CM000670.1:g.43033327T>G | GRCh37 |
| NC_000008.9:g.43152484T>G | NCBI36 |
| NG_009552.1:g.42736T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000379644.9:c.962T>G MANE Select | ENSP00000368965.4:p.Leu321Ter | |
| ENST00000379644.8:c.962T>G | ENSP00000368965.4:p.Leu321Ter | |
| ENST00000522082.5:c.203T>G | ENSP00000430151.1:p.Leu68Ter | |
| ENST00000524016.5:c.66T>G | ||
| NM_152419.2:c.962T>G | NP_689632.2:p.Leu321Ter | |
| XM_005273409.1:c.962T>G | XP_005273466.1:p.Leu321Ter | |
| XM_005273410.1:c.962T>G | XP_005273467.1:p.Leu321Ter | |
| XM_005273411.1:c.821-3961T>G | XP_005273468.1:n.821-3961T>G | |
| XM_005273412.2:c.962T>G | XP_005273469.1:p.Leu321Ter | |
| NM_001363227.1:c.962T>G | NP_001350156.1:p.Leu321Ter | |
| NM_001363228.1:c.821-3961T>G | NP_001350157.1:n.821-3961T>G | |
| NM_001363229.1:c.98T>G | NP_001350158.1:p.Leu33Ter | |
| XM_005273412.4:c.962T>G | XP_005273469.1:p.Leu321Ter | |
| NM_152419.3:c.962T>G MANE Select | NP_689632.2:p.Leu321Ter | |
| NM_001363227.2:c.962T>G | NP_001350156.1:p.Leu321Ter | |
| NM_001363228.2:c.821-3961T>G | NP_001350157.1:n.821-3961T>G | |
| NM_001363229.2:c.98T>G | NP_001350158.1:p.Leu33Ter |