Linked Data
ClinVar Variation Id:
299891
ClinVar RCV Id:
RCV000312196
RCV000313283
RCV000370252
RCV000393718
RCV000654549
RCV002321978
RCV003480586
dbSNP Id:
rs776223166
ExAC:
10:43604577 G / A
gnomAD v2:
10-43604577-G-A
gnomAD v3:
10-43109129-G-A
gnomAD v4:
10-43109129-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43109129G>A , CM000672.2:g.43109129G>A | GRCh38 |
| NC_000010.10:g.43604577G>A , CM000672.1:g.43604577G>A | GRCh37 |
| NC_000010.9:g.42924583G>A | NCBI36 |
| NG_007489.1:g.37061G>A , LRG_518:g.37061G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.868-2078G>A | ENSP00000480088.2:n.868-2078G>A | |
| ENST00000683007.1:n.736G>A | ||
| ENST00000340058.6:c.1162G>A | ENSP00000344798.4:p.Val388Ile | |
| ENST00000355710.8:c.1162G>A MANE Select | ENSP00000347942.3:p.Val388Ile | |
| ENST00000671844.1:c.626-2078G>A | ENSP00000500541.1:n.626-2078G>A | |
| ENST00000672389.1:c.74-2078G>A | ENSP00000500252.1:n.74-2078G>A | |
| ENST00000340058.5:c.1162G>A | ENSP00000344798.4:p.Val388Ile | |
| ENST00000355710.7:c.1162G>A | ENSP00000347942.3:p.Val388Ile | |
| ENST00000498820.5:c.74-2970G>A | ENSP00000419080.1:n.74-2970G>A | |
| ENST00000615310.4:c.1162G>A | ENSP00000480088.1:p.Val388Ile | |
| NM_020630.4:c.1162G>A , LRG_518t2:c.1162G>A | NP_065681.1:p.Val388Ile | |
| NM_020975.4:c.1162G>A , LRG_518t1:c.1162G>A | NP_066124.1:p.Val388Ile | |
| XM_011540027.1:c.1162G>A | XP_011538329.1:p.Val388Ile | |
| NM_001355216.1:c.400G>A | NP_001342145.1:p.Val134Ile | |
| NM_020630.5:c.1162G>A | NP_065681.1:p.Val388Ile | |
| NM_020975.5:c.1162G>A | NP_066124.1:p.Val388Ile | |
| NM_020975.6:c.1162G>A MANE Select | NP_066124.1:p.Val388Ile | |
| NM_020630.6:c.1162G>A | NP_065681.1:p.Val388Ile |