Linked Data
ClinVar Variation Id:
141044
dbSNP Id:
rs104893831
ExAC:
3:10188233 G / A
gnomAD v2:
3-10188233-G-A
gnomAD v4:
3-10146549-G-A
COSMIC:
COSM18060
ERepo:
CA020313/MONDO:0008667/078
CIViC:
CA020313
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146549G>A , CM000665.2:g.10146549G>A | GRCh38 |
| NC_000003.11:g.10188233G>A , CM000665.1:g.10188233G>A | GRCh37 |
| NC_000003.10:g.10163233G>A | NCBI36 |
| NG_008212.3:g.9915G>A , LRG_322:g.9915G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*53G>A | ENSP00000512434.1:n.*53G>A | |
| ENST00000696143.1:c.600-3238G>A | ENSP00000512435.1:n.600-3238G>A | |
| ENST00000696153.1:c.376G>A | ENSP00000512444.1:p.Asp126Asn | |
| ENST00000256474.3:c.376G>A MANE Select | ENSP00000256474.3:p.Asp126Asn | |
| ENST00000256474.2:c.376G>A | ENSP00000256474.2:p.Asp126Asn | |
| ENST00000345392.2:c.341-3238G>A | ENSP00000344757.2:n.341-3238G>A | |
| ENST00000477538.1:n.512G>A | ||
| NM_000551.3:c.376G>A , LRG_322t1:c.376G>A | NP_000542.1:p.Asp126Asn | |
| NM_198156.2:c.341-3238G>A | NP_937799.1:n.341-3238G>A | |
| XM_011534078.1:c.*53G>A | XP_011532380.1:n.*53G>A | |
| NM_001354723.1:c.*18-3238G>A | NP_001341652.1:n.*18-3238G>A | |
| NM_000551.4:c.376G>A MANE Select | NP_000542.1:p.Asp126Asn | |
| NM_001354723.2:c.*18-3238G>A | NP_001341652.1:n.*18-3238G>A | |
| NM_198156.3:c.341-3238G>A | NP_937799.1:n.341-3238G>A |