Linked Data
ClinVar Variation Id:
376372
ClinVar RCV Id:
RCV000421385
RCV000421129
RCV000428897
RCV000423518
RCV000432053
RCV000434386
RCV000434444
RCV000438363
RCV000439578
RCV000442386
dbSNP Id:
rs1057519879
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711548T>G , CM000677.2:g.44711548T>G | GRCh38 |
| NC_000015.9:g.45003746T>G , CM000677.1:g.45003746T>G | GRCh37 |
| NC_000015.8:g.42791038T>G | NCBI36 |
| NG_012920.1:g.5062T>G | |
| NG_012920.2:g.5072T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+108T>G | ||
| ENST00000648006.3:c.2T>G MANE Select | ENSP00000497910.1:p.Met1Arg | |
| ENST00000349264.10:c.2T>G | ENSP00000340858.6:p.Met1Arg | |
| ENST00000544417.5:c.2T>G | ENSP00000437604.2:p.Met1Arg | |
| ENST00000557901.5:c.2T>G | ENSP00000452861.1:p.Met1Arg | |
| ENST00000558401.5:c.2T>G | ENSP00000452780.1:p.Met1Arg | |
| ENST00000559720.5:n.62T>G | ||
| ENST00000559916.1:c.2T>G | ENSP00000453350.1:p.Met1Arg | |
| ENST00000561424.5:c.2T>G | ENSP00000453191.1:p.Met1Arg | |
| NM_004048.2:c.2T>G | NP_004039.1:p.Met1Arg | |
| XM_005254549.2:c.2T>G | XP_005254606.1:p.Met1Arg | |
| NM_004048.3:c.2T>G | NP_004039.1:p.Met1Arg | |
| XM_005254549.3:c.2T>G | XP_005254606.1:p.Met1Arg | |
| XR_002957658.1:n.57T>G | ||
| NM_004048.4:c.2T>G MANE Select | NP_004039.1:p.Met1Arg |