Linked Data
ClinVar Variation Id:
427780
ClinVar RCV Id:
RCV000490798
dbSNP Id:
rs1114167443
PubMed:
PMID:28132691
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.67340940A>C , CM000679.2:g.67340940A>C | GRCh38 |
| NC_000017.10:g.65337056A>C , CM000679.1:g.65337056A>C | GRCh37 |
| NC_000017.9:g.62767518A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356126.8:c.1274T>G MANE Select | ENSP00000348442.3:p.Leu425Ter | |
| ENST00000356126.7:c.1274T>G | ENSP00000348442.3:p.Leu425Ter | |
| ENST00000357146.4:c.1214T>G | ENSP00000349667.4:p.Leu405Ter | |
| ENST00000584008.5:c.*1429T>G | ENSP00000462525.1:n.*1429T>G | |
| NM_001316341.1:c.1097T>G | NP_001303270.1:p.Leu366Ter | |
| NM_002816.3:c.1274T>G | NP_002807.1:p.Leu425Ter | |
| NM_002816.4:c.1274T>G | NP_002807.1:p.Leu425Ter | |
| NM_174871.2:c.1214T>G | NP_777360.1:p.Leu405Ter | |
| NM_174871.3:c.1214T>G | NP_777360.1:p.Leu405Ter | |
| XM_011525048.1:c.1097T>G | XP_011523350.1:p.Leu366Ter | |
| XM_011525049.1:c.1097T>G | XP_011523351.1:p.Leu366Ter | |
| XM_024450842.1:c.1361T>G | XP_024306610.1:p.Leu454Ter | |
| XM_024450843.1:c.1097T>G | XP_024306611.1:p.Leu366Ter | |
| XR_001752571.2:n.1385T>G | ||
| NM_002816.5:c.1274T>G MANE Select | NP_002807.1:p.Leu425Ter | |
| NM_001316341.2:c.1097T>G | NP_001303270.1:p.Leu366Ter | |
| NM_174871.4:c.1214T>G | NP_777360.1:p.Leu405Ter |