Linked Data
ClinVar Variation Id:
376371
ClinVar RCV Id:
RCV000419044
RCV000419253
RCV000420355
RCV000427508
RCV000429996
RCV000426708
RCV000437364
RCV000439772
RCV000444855
RCV000438190
dbSNP Id:
rs1057519879
COSMIC:
COSM144529
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711548T>C , CM000677.2:g.44711548T>C | GRCh38 |
| NC_000015.9:g.45003746T>C , CM000677.1:g.45003746T>C | GRCh37 |
| NC_000015.8:g.42791038T>C | NCBI36 |
| NG_012920.1:g.5062T>C | |
| NG_012920.2:g.5072T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+108T>C | ||
| ENST00000648006.3:c.2T>C MANE Select | ENSP00000497910.1:p.Met1Thr | |
| ENST00000349264.10:c.2T>C | ENSP00000340858.6:p.Met1Thr | |
| ENST00000544417.5:c.2T>C | ENSP00000437604.2:p.Met1Thr | |
| ENST00000557901.5:c.2T>C | ENSP00000452861.1:p.Met1Thr | |
| ENST00000558401.5:c.2T>C | ENSP00000452780.1:p.Met1Thr | |
| ENST00000559720.5:n.62T>C | ||
| ENST00000559916.1:c.2T>C | ENSP00000453350.1:p.Met1Thr | |
| ENST00000561424.5:c.2T>C | ENSP00000453191.1:p.Met1Thr | |
| NM_004048.2:c.2T>C | NP_004039.1:p.Met1Thr | |
| XM_005254549.2:c.2T>C | XP_005254606.1:p.Met1Thr | |
| NM_004048.3:c.2T>C | NP_004039.1:p.Met1Thr | |
| XM_005254549.3:c.2T>C | XP_005254606.1:p.Met1Thr | |
| XR_002957658.1:n.57T>C | ||
| NM_004048.4:c.2T>C MANE Select | NP_004039.1:p.Met1Thr |