Linked Data
ClinVar Variation Id:
376370
ClinVar RCV Id:
RCV000422880
RCV000421861
RCV000425118
RCV000430300
RCV000431428
RCV000432545
RCV000432685
RCV000441906
RCV000439880
RCV000440097
dbSNP Id:
rs1023835002
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711547A>T , CM000677.2:g.44711547A>T | GRCh38 |
| NC_000015.9:g.45003745A>T , CM000677.1:g.45003745A>T | GRCh37 |
| NC_000015.8:g.42791037A>T | NCBI36 |
| NG_012920.1:g.5061A>T | |
| NG_012920.2:g.5071A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+107A>T | ||
| ENST00000648006.3:c.1A>T MANE Select | ENSP00000497910.1:p.Met1Leu | |
| ENST00000349264.10:c.1A>T | ENSP00000340858.6:p.Met1Leu | |
| ENST00000544417.5:c.1A>T | ENSP00000437604.2:p.Met1Leu | |
| ENST00000557901.5:c.1A>T | ENSP00000452861.1:p.Met1Leu | |
| ENST00000558401.5:c.1A>T | ENSP00000452780.1:p.Met1Leu | |
| ENST00000559720.5:n.61A>T | ||
| ENST00000559916.1:c.1A>T | ENSP00000453350.1:p.Met1Leu | |
| ENST00000561424.5:c.1A>T | ENSP00000453191.1:p.Met1Leu | |
| NM_004048.2:c.1A>T | NP_004039.1:p.Met1Leu | |
| XM_005254549.2:c.1A>T | XP_005254606.1:p.Met1Leu | |
| NM_004048.3:c.1A>T | NP_004039.1:p.Met1Leu | |
| XM_005254549.3:c.1A>T | XP_005254606.1:p.Met1Leu | |
| XR_002957658.1:n.56A>T | ||
| NM_004048.4:c.1A>T MANE Select | NP_004039.1:p.Met1Leu |