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:
526679
dbSNP Id:
rs869025657
gnomAD v4:
3-10146637-G-A
COSMIC:
COSM51391
PCER:
P-CER:CA16621909/193300
CIViC:
CA16621909
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146637G>A , CM000665.2:g.10146637G>A | GRCh38 |
| NC_000003.11:g.10188321G>A , CM000665.1:g.10188321G>A | GRCh37 |
| NC_000003.10:g.10163321G>A | NCBI36 |
| NG_008212.3:g.10003G>A , LRG_322:g.10003G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*140+1G>A | ENSP00000512434.1:n.*140+1G>A | |
| ENST00000696143.1:c.600-3150G>A | ENSP00000512435.1:n.600-3150G>A | |
| ENST00000696153.1:c.463+1G>A | ENSP00000512444.1:n.463+1G>A | |
| ENST00000256474.3:c.463+1G>A MANE Select | ENSP00000256474.3:n.463+1G>A | |
| ENST00000256474.2:c.463+1G>A | ENSP00000256474.2:n.463+1G>A | |
| ENST00000345392.2:c.341-3150G>A | ENSP00000344757.2:n.341-3150G>A | |
| ENST00000477538.1:n.599+1G>A | ||
| NM_000551.3:c.463+1G>A , LRG_322t1:c.463+1G>A | NP_000542.1:n.463+1G>A | |
| NM_198156.2:c.341-3150G>A | NP_937799.1:n.341-3150G>A | |
| NM_001354723.1:c.*18-3150G>A | NP_001341652.1:n.*18-3150G>A | |
| NM_000551.4:c.463+1G>A MANE Select | NP_000542.1:n.463+1G>A | |
| NM_001354723.2:c.*18-3150G>A | NP_001341652.1:n.*18-3150G>A | |
| NM_198156.3:c.341-3150G>A | NP_937799.1:n.341-3150G>A |