Linked Data
ClinVar Variation Id:
421007
ClinVar RCV Id:
RCV000483739
RCV000850128
RCV001266687
RCV001770372
RCV001270352
RCV003126749
RCV001254702
dbSNP Id:
rs1064794848
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.69382555C>T , CM000672.2:g.69382555C>T | GRCh38 |
| NC_000010.10:g.71142311C>T , CM000672.1:g.71142311C>T | GRCh37 |
| NC_000010.9:g.70812317C>T | NCBI36 |
| NG_012077.1:g.117556C>T , LRG_365:g.117556C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000470050.2:c.1334C>T | ENSP00000515580.1:p.Ser445Leu | |
| ENST00000703945.1:c.1250C>T | ENSP00000515578.1:p.Ser417Leu | |
| ENST00000703946.1:c.1265+2460C>T | ENSP00000515579.1:n.1265+2460C>T | |
| ENST00000703947.1:c.944C>T | ENSP00000515581.1:p.Ser315Leu | |
| ENST00000703948.1:c.*951C>T | ENSP00000515582.1:n.*951C>T | |
| ENST00000703949.1:c.1334C>T | ENSP00000515583.1:p.Ser445Leu | |
| ENST00000703950.1:c.1334C>T | ENSP00000515584.1:p.Ser445Leu | |
| ENST00000703951.1:c.1265+2460C>T | ENSP00000515585.1:n.1265+2460C>T | |
| ENST00000703952.1:c.1265+2460C>T | ENSP00000515586.1:n.1265+2460C>T | |
| ENST00000703953.1:c.*597C>T | ENSP00000515587.1:n.*597C>T | |
| ENST00000703954.1:c.1214C>T | ENSP00000515588.1:p.Ser405Leu | |
| ENST00000703955.1:n.1884C>T | ||
| ENST00000298649.8:c.1331C>T | ENSP00000298649.3:p.Ser444Leu | |
| ENST00000359426.7:c.1334C>T MANE Select | ENSP00000352398.6:p.Ser445Leu | |
| ENST00000436817.6:c.1346C>T | ENSP00000415949.2:p.Ser449Leu | |
| ENST00000493591.6:c.*1222C>T | ENSP00000494917.1:n.*1222C>T | |
| ENST00000643399.2:c.1346C>T MANE Plus Clinical | ENSP00000494664.1:p.Ser449Leu | |
| ENST00000298649.7:c.1331C>T | ENSP00000298649.3:p.Ser444Leu | |
| ENST00000359426.6:c.1334C>T | ENSP00000352398.6:p.Ser445Leu | |
| ENST00000360289.6:c.1298C>T | ENSP00000353433.2:p.Ser433Leu | |
| ENST00000448642.6:c.1346C>T | ENSP00000402103.3:p.Ser449Leu | |
| ENST00000494253.1:n.1560C>T | ||
| NM_000188.2:c.1334C>T | NP_000179.2:p.Ser445Leu | |
| NM_033496.2:c.1331C>T | NP_277031.1:p.Ser444Leu | |
| NM_033497.2:c.1346C>T | NP_277032.1:p.Ser449Leu | |
| NM_033498.2:c.1346C>T | NP_277033.1:p.Ser449Leu | |
| NM_033500.2:c.1298C>T , LRG_365t1:c.1298C>T | NP_277035.2:p.Ser433Leu | |
| XM_005269735.2:c.1463C>T | XP_005269792.1:p.Ser488Leu | |
| XM_005269736.1:c.1346C>T | XP_005269793.1:p.Ser449Leu | |
| XM_005269737.1:c.1250C>T | XP_005269794.1:p.Ser417Leu | |
| XM_011539732.1:c.1298C>T | XP_011538034.1:p.Ser433Leu | |
| XM_011539733.1:c.1292C>T | XP_011538035.1:p.Ser431Leu | |
| XM_011539734.1:c.1289C>T | XP_011538036.1:p.Ser430Leu | |
| NM_001322364.1:c.1346C>T | NP_001309293.1:p.Ser449Leu | |
| NM_001322365.1:c.1439C>T | NP_001309294.1:p.Ser480Leu | |
| NM_001322366.1:c.1250C>T | NP_001309295.1:p.Ser417Leu | |
| NM_001322367.1:c.1238C>T | NP_001309296.1:p.Ser413Leu | |
| NM_001358263.1:c.1346C>T MANE Plus Clinical | NP_001345192.1:p.Ser449Leu | |
| XM_024447969.1:c.1346C>T | XP_024303737.1:p.Ser449Leu | |
| NM_000188.3:c.1334C>T MANE Select | NP_000179.2:p.Ser445Leu | |
| NM_001322364.2:c.1346C>T | NP_001309293.1:p.Ser449Leu | |
| NM_001322365.2:c.1439C>T | NP_001309294.1:p.Ser480Leu | |
| NM_033496.3:c.1331C>T | NP_277031.1:p.Ser444Leu | |
| NM_033497.3:c.1346C>T | NP_277032.1:p.Ser449Leu | |
| NM_033498.3:c.1346C>T | NP_277033.1:p.Ser449Leu |