Linked Data
ClinVar Variation Id:
24913
dbSNP Id:
rs377767406
ExAC:
10:43609939 G / A
gnomAD v2:
10-43609939-G-A
gnomAD v3:
10-43114491-G-A
gnomAD v4:
10-43114491-G-A
COSMIC:
COSM1237916
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.43114491G>A , CM000672.2:g.43114491G>A | GRCh38 |
| NC_000010.10:g.43609939G>A , CM000672.1:g.43609939G>A | GRCh37 |
| NC_000010.9:g.42929945G>A | NCBI36 |
| NG_007489.1:g.42423G>A , LRG_518:g.42423G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000615310.5:c.1495G>A | ENSP00000480088.2:p.Asp499Asn | |
| ENST00000683007.1:n.1465G>A | ||
| ENST00000683872.1:n.1456G>A | ||
| ENST00000340058.6:c.1891G>A | ENSP00000344798.4:p.Asp631Asn | |
| ENST00000355710.8:c.1891G>A MANE Select | ENSP00000347942.3:p.Asp631Asn | |
| ENST00000671844.1:c.*485G>A | ENSP00000500541.1:n.*485G>A | |
| ENST00000672389.1:c.*485G>A | ENSP00000500252.1:n.*485G>A | |
| ENST00000340058.5:c.1891G>A | ENSP00000344798.4:p.Asp631Asn | |
| ENST00000355710.7:c.1891G>A | ENSP00000347942.3:p.Asp631Asn | |
| ENST00000498820.5:c.442G>A | ENSP00000419080.1:p.Asp148Asn | |
| ENST00000615310.4:c.1289+3259G>A | ENSP00000480088.1:n.1289+3259G>A | |
| NM_020630.4:c.1891G>A , LRG_518t2:c.1891G>A | NP_065681.1:p.Asp631Asn | |
| NM_020975.4:c.1891G>A , LRG_518t1:c.1891G>A | NP_066124.1:p.Asp631Asn | |
| XM_011540027.1:c.1891G>A | XP_011538329.1:p.Asp631Asn | |
| NM_001355216.1:c.1129G>A | NP_001342145.1:p.Asp377Asn | |
| NM_020630.5:c.1891G>A | NP_065681.1:p.Asp631Asn | |
| NM_020975.5:c.1891G>A | NP_066124.1:p.Asp631Asn | |
| NM_020975.6:c.1891G>A MANE Select | NP_066124.1:p.Asp631Asn | |
| NM_020630.6:c.1891G>A | NP_065681.1:p.Asp631Asn |