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:
576437
ClinVar RCV Id:
RCV000698934
dbSNP Id:
rs869025650
gnomAD v2:
3-10188287-G-A
gnomAD v4:
3-10146603-G-A
COSMIC:
COSM1035874
CIViC:
CA70049557
PCER:
P-CER:CA70049557/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146603G>A , CM000665.2:g.10146603G>A | GRCh38 |
| NC_000003.11:g.10188287G>A , CM000665.1:g.10188287G>A | GRCh37 |
| NC_000003.10:g.10163287G>A | NCBI36 |
| NG_008212.3:g.9969G>A , LRG_322:g.9969G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*107G>A | ENSP00000512434.1:n.*107G>A | |
| ENST00000696143.1:c.600-3184G>A | ENSP00000512435.1:n.600-3184G>A | |
| ENST00000696153.1:c.430G>A | ENSP00000512444.1:p.Gly144Arg | |
| ENST00000256474.3:c.430G>A MANE Select | ENSP00000256474.3:p.Gly144Arg | |
| ENST00000256474.2:c.430G>A | ENSP00000256474.2:p.Gly144Arg | |
| ENST00000345392.2:c.341-3184G>A | ENSP00000344757.2:n.341-3184G>A | |
| ENST00000477538.1:n.566G>A | ||
| NM_000551.3:c.430G>A , LRG_322t1:c.430G>A | NP_000542.1:p.Gly144Arg | |
| NM_198156.2:c.341-3184G>A | NP_937799.1:n.341-3184G>A | |
| NM_001354723.1:c.*18-3184G>A | NP_001341652.1:n.*18-3184G>A | |
| NM_000551.4:c.430G>A MANE Select | NP_000542.1:p.Gly144Arg | |
| NM_001354723.2:c.*18-3184G>A | NP_001341652.1:n.*18-3184G>A | |
| NM_198156.3:c.341-3184G>A | NP_937799.1:n.341-3184G>A |