Linked Data
ClinVar Variation Id:
376368
ClinVar RCV Id:
RCV000422802
RCV000426129
RCV000423896
RCV000430927
RCV000432370
RCV000433517
RCV000433775
RCV000441172
RCV000442543
RCV000442680
dbSNP Id:
rs1057519877
gnomAD v4:
15-44711549-G-A
PubMed:
PMID:26619011
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.44711549G>A , CM000677.2:g.44711549G>A | GRCh38 |
| NC_000015.9:g.45003747G>A , CM000677.1:g.45003747G>A | GRCh37 |
| NC_000015.8:g.42791039G>A | NCBI36 |
| NG_012920.1:g.5063G>A | |
| NG_012920.2:g.5073G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695792.1:n.83+109G>A | ||
| ENST00000648006.3:c.3G>A MANE Select | ENSP00000497910.1:p.Met1Ile | |
| ENST00000349264.10:c.3G>A | ENSP00000340858.6:p.Met1Ile | |
| ENST00000544417.5:c.3G>A | ENSP00000437604.2:p.Met1Ile | |
| ENST00000557901.5:c.3G>A | ENSP00000452861.1:p.Met1Ile | |
| ENST00000558401.5:c.3G>A | ENSP00000452780.1:p.Met1Ile | |
| ENST00000559720.5:n.63G>A | ||
| ENST00000559916.1:c.3G>A | ENSP00000453350.1:p.Met1Ile | |
| ENST00000561424.5:c.3G>A | ENSP00000453191.1:p.Met1Ile | |
| NM_004048.2:c.3G>A | NP_004039.1:p.Met1Ile | |
| XM_005254549.2:c.3G>A | XP_005254606.1:p.Met1Ile | |
| NM_004048.3:c.3G>A | NP_004039.1:p.Met1Ile | |
| XM_005254549.3:c.3G>A | XP_005254606.1:p.Met1Ile | |
| XR_002957658.1:n.58G>A | ||
| NM_004048.4:c.3G>A MANE Select | NP_004039.1:p.Met1Ile |