Linked Data
ClinVar Variation Id:
287736
ClinVar RCV Id:
RCV000282321
RCV000566877
RCV000679710
RCV001084015
RCV001104290
RCV001104291
RCV001104292
RCV001104293
RCV003316464
dbSNP Id:
rs113931414
ExAC:
10:43604534 G / A
gnomAD v2:
10-43604534-G-A
gnomAD v3:
10-43109086-G-A
gnomAD v4:
10-43109086-G-A
COSMIC:
COSM20676
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43109086G>A , CM000672.2:g.43109086G>A | GRCh38 |
| NC_000010.10:g.43604534G>A , CM000672.1:g.43604534G>A | GRCh37 |
| NC_000010.9:g.42924540G>A | NCBI36 |
| NG_007489.1:g.37018G>A , LRG_518:g.37018G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000615310.5:c.868-2121G>A | ENSP00000480088.2:n.868-2121G>A | |
| ENST00000683007.1:n.693G>A | ||
| ENST00000340058.6:c.1119G>A | ENSP00000344798.4:p.Ala373= | |
| ENST00000355710.8:c.1119G>A MANE Select | ENSP00000347942.3:p.Ala373= | |
| ENST00000671844.1:c.626-2121G>A | ENSP00000500541.1:n.626-2121G>A | |
| ENST00000672389.1:c.74-2121G>A | ENSP00000500252.1:n.74-2121G>A | |
| ENST00000340058.5:c.1119G>A | ENSP00000344798.4:p.Ala373= | |
| ENST00000355710.7:c.1119G>A | ENSP00000347942.3:p.Ala373= | |
| ENST00000498820.5:c.74-3013G>A | ENSP00000419080.1:n.74-3013G>A | |
| ENST00000615310.4:c.1119G>A | ENSP00000480088.1:p.Ala373= | |
| NM_020630.4:c.1119G>A , LRG_518t2:c.1119G>A | NP_065681.1:p.Ala373= | |
| NM_020975.4:c.1119G>A , LRG_518t1:c.1119G>A | NP_066124.1:p.Ala373= | |
| XM_011540027.1:c.1119G>A | XP_011538329.1:p.Ala373= | |
| NM_001355216.1:c.357G>A | NP_001342145.1:p.Ala119= | |
| NM_020630.5:c.1119G>A | NP_065681.1:p.Ala373= | |
| NM_020975.5:c.1119G>A | NP_066124.1:p.Ala373= | |
| NM_020975.6:c.1119G>A MANE Select | NP_066124.1:p.Ala373= | |
| NM_020630.6:c.1119G>A | NP_065681.1:p.Ala373= |