Linked Data
ClinVar Variation Id:
290033
ClinVar RCV Id:
RCV000390686
RCV000705851
RCV001155190
RCV001155191
RCV001155192
RCV001156841
RCV002278323
RCV001156842
dbSNP Id:
rs139051143
ExAC:
5:149360237 G / A
gnomAD v2:
5-149360237-G-A
gnomAD v3:
5-149980674-G-A
gnomAD v4:
5-149980674-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149980674G>A , CM000667.2:g.149980674G>A | GRCh38 |
| NC_000005.9:g.149360237G>A , CM000667.1:g.149360237G>A | GRCh37 |
| NC_000005.8:g.149340430G>A | NCBI36 |
| NG_007147.2:g.21792G>A , LRG_684:g.21792G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1081G>A MANE Select | ENSP00000286298.4:p.Ala361Thr | |
| ENST00000286298.4:c.1081G>A | ENSP00000286298.4:p.Ala361Thr | |
| ENST00000503336.1:c.372+2323G>A | ENSP00000426053.1:n.372+2323G>A | |
| NM_000112.3:c.1081G>A , LRG_684t1:c.1081G>A | NP_000103.2:p.Ala361Thr | |
| XM_017009191.2:c.1081G>A | XP_016864680.1:p.Ala361Thr | |
| NM_000112.4:c.1081G>A MANE Select | NP_000103.2:p.Ala361Thr |