Linked Data
ClinVar Variation Id:
282910
ClinVar RCV Id:
RCV000259647
RCV000299908
RCV000354703
RCV000367416
RCV000361664
RCV000407213
RCV001084518
dbSNP Id:
rs76668544
ExAC:
5:149360668 G / A
gnomAD v2:
5-149360668-G-A
gnomAD v3:
5-149981105-G-A
gnomAD v4:
5-149981105-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.149981105G>A , CM000667.2:g.149981105G>A | GRCh38 |
| NC_000005.9:g.149360668G>A , CM000667.1:g.149360668G>A | GRCh37 |
| NC_000005.8:g.149340861G>A | NCBI36 |
| NG_007147.2:g.22223G>A , LRG_684:g.22223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000286298.5:c.1512G>A MANE Select | ENSP00000286298.4:p.Met504Ile | |
| ENST00000286298.4:c.1512G>A | ENSP00000286298.4:p.Met504Ile | |
| ENST00000503336.1:c.372+2754G>A | ENSP00000426053.1:n.372+2754G>A | |
| NM_000112.3:c.1512G>A , LRG_684t1:c.1512G>A | NP_000103.2:p.Met504Ile | |
| XM_017009191.2:c.1512G>A | XP_016864680.1:p.Met504Ile | |
| NM_000112.4:c.1512G>A MANE Select | NP_000103.2:p.Met504Ile |