UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Linked Data
ClinVar Variation Id:
456585
ClinVar RCV Id:
RCV000553383
dbSNP Id:
rs1354593943
gnomAD v2:
3-10188234-A-G
gnomAD v3:
3-10146550-A-G
gnomAD v4:
3-10146550-A-G
COSMIC:
COSM14392
CIViC:
CA351753841
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146550A>G , CM000665.2:g.10146550A>G | GRCh38 |
| NC_000003.11:g.10188234A>G , CM000665.1:g.10188234A>G | GRCh37 |
| NC_000003.10:g.10163234A>G | NCBI36 |
| NG_008212.3:g.9916A>G , LRG_322:g.9916A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*54A>G | ENSP00000512434.1:n.*54A>G | |
| ENST00000696143.1:c.600-3237A>G | ENSP00000512435.1:n.600-3237A>G | |
| ENST00000696153.1:c.377A>G | ENSP00000512444.1:p.Asp126Gly | |
| ENST00000256474.3:c.377A>G MANE Select | ENSP00000256474.3:p.Asp126Gly | |
| ENST00000256474.2:c.377A>G | ENSP00000256474.2:p.Asp126Gly | |
| ENST00000345392.2:c.341-3237A>G | ENSP00000344757.2:n.341-3237A>G | |
| ENST00000477538.1:n.513A>G | ||
| NM_000551.3:c.377A>G , LRG_322t1:c.377A>G | NP_000542.1:p.Asp126Gly | |
| NM_198156.2:c.341-3237A>G | NP_937799.1:n.341-3237A>G | |
| XM_011534078.1:c.*54A>G | XP_011532380.1:n.*54A>G | |
| NM_001354723.1:c.*18-3237A>G | NP_001341652.1:n.*18-3237A>G | |
| NM_000551.4:c.377A>G MANE Select | NP_000542.1:p.Asp126Gly | |
| NM_001354723.2:c.*18-3237A>G | NP_001341652.1:n.*18-3237A>G | |
| NM_198156.3:c.341-3237A>G | NP_937799.1:n.341-3237A>G |