Linked Data
ClinVar Variation Id:
580498
ClinVar RCV Id:
RCV003362916
dbSNP Id:
rs1057519368
COSMIC:
COSM5327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87957958T>A , CM000672.2:g.87957958T>A | GRCh38 |
| NC_000010.10:g.89717715T>A , CM000672.1:g.89717715T>A | GRCh37 |
| NC_000010.9:g.89707695T>A | NCBI36 |
| NG_007466.2:g.99520T>A , LRG_311:g.99520T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000700029.2:c.740T>A | ENSP00000514759.2:p.Leu247Ter | |
| ENST00000710265.1:c.740T>A | ENSP00000518161.1:p.Leu247Ter | |
| ENST00000472832.3:c.740T>A | ENSP00000483066.2:p.Leu247Ter | |
| ENST00000688158.2:n.1475T>A | ||
| ENST00000688922.2:c.*570T>A | ENSP00000508742.2:n.*570T>A | |
| ENST00000700021.1:c.695T>A | ENSP00000514757.1:p.Leu232Ter | |
| ENST00000700022.1:c.*79T>A | ENSP00000514758.1:n.*79T>A | |
| ENST00000700023.1:n.1898T>A | ||
| ENST00000700024.1:n.2132T>A | ||
| ENST00000700025.1:n.1509T>A | ||
| ENST00000700026.1:n.377T>A | ||
| ENST00000700029.1:c.574T>A | ||
| ENST00000706954.1:c.740T>A | ENSP00000516674.1:p.Leu247Ter | |
| ENST00000706955.1:c.*775T>A | ENSP00000516675.1:n.*775T>A | |
| ENST00000686459.1:c.*326T>A | ENSP00000508909.1:n.*326T>A | |
| ENST00000688158.1:c.*851T>A | ENSP00000509254.1:n.*851T>A | |
| ENST00000688308.1:c.740T>A | ENSP00000508752.1:p.Leu247Ter | |
| ENST00000688922.1:c.661T>A | ||
| ENST00000693560.1:c.1259T>A | ENSP00000509861.1:p.Leu420Ter | |
| ENST00000371953.8:c.740T>A MANE Select | ENSP00000361021.3:p.Leu247Ter | |
| ENST00000371953.7:c.740T>A | ENSP00000361021.3:p.Leu247Ter | |
| ENST00000472832.2:c.167T>A | ENSP00000483066.1:p.Leu56Ter | |
| NM_000314.5:c.740T>A | NP_000305.3:p.Leu247Ter | |
| NM_000314.6:c.740T>A | NP_000305.3:p.Leu247Ter | |
| NM_001304717.2:c.1259T>A | NP_001291646.2:p.Leu420Ter | |
| NM_001304718.1:c.149T>A | NP_001291647.1:p.Leu50Ter | |
| XM_006717926.2:c.695T>A | XP_006717989.1:p.Leu232Ter | |
| XM_011539981.1:c.740T>A | XP_011538283.1:p.Leu247Ter | |
| XM_011539982.1:c.644T>A | XP_011538284.1:p.Leu215Ter | |
| XR_945791.1:n.1310T>A | ||
| NM_000314.7:c.740T>A | NP_000305.3:p.Leu247Ter | |
| NM_001304717.5:c.1259T>A | NP_001291646.4:p.Leu420Ter | |
| NM_001304718.2:c.149T>A | NP_001291647.1:p.Leu50Ter | |
| NM_000314.8:c.740T>A MANE Select | NP_000305.3:p.Leu247Ter |