Linked Data
ClinVar Variation Id:
223200
dbSNP Id:
rs5030832
gnomAD v4:
3-10146535-A-G
COSMIC:
COSM18009
CIViC:
CA357083
PubMed:
PMID:7977367
PMID:8956040
PMID:11409863
PMID:11865071
PMID:14722919
PMID:15300849
PMID:16572651
PMID:19030229
PCER:
P-CER:CA357083/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146535A>G , CM000665.2:g.10146535A>G | GRCh38 |
| NC_000003.11:g.10188219A>G , CM000665.1:g.10188219A>G | GRCh37 |
| NC_000003.10:g.10163219A>G | NCBI36 |
| NG_008212.3:g.9901A>G , LRG_322:g.9901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696142.1:c.*39A>G | ENSP00000512434.1:n.*39A>G | |
| ENST00000696143.1:c.600-3252A>G | ENSP00000512435.1:n.600-3252A>G | |
| ENST00000696153.1:c.362A>G | ENSP00000512444.1:p.Asp121Gly | |
| ENST00000256474.3:c.362A>G MANE Select | ENSP00000256474.3:p.Asp121Gly | |
| ENST00000256474.2:c.362A>G | ENSP00000256474.2:p.Asp121Gly | |
| ENST00000345392.2:c.341-3252A>G | ENSP00000344757.2:n.341-3252A>G | |
| ENST00000477538.1:n.498A>G | ||
| NM_000551.3:c.362A>G , LRG_322t1:c.362A>G | NP_000542.1:p.Asp121Gly | |
| NM_198156.2:c.341-3252A>G | NP_937799.1:n.341-3252A>G | |
| XM_011534078.1:c.*39A>G | XP_011532380.1:n.*39A>G | |
| NM_001354723.1:c.*18-3252A>G | NP_001341652.1:n.*18-3252A>G | |
| NM_000551.4:c.362A>G MANE Select | NP_000542.1:p.Asp121Gly | |
| NM_001354723.2:c.*18-3252A>G | NP_001341652.1:n.*18-3252A>G | |
| NM_198156.3:c.341-3252A>G | NP_937799.1:n.341-3252A>G |