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:
2683684
ClinVar RCV Id:
RCV003480504
dbSNP Id:
rs727504215
gnomAD v2:
3-10188208-G-A
COSMIC:
COSM14399
CIViC:
CA351753679
PCER:
P-CER:CA351753679/193300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10146524G>A , CM000665.2:g.10146524G>A | GRCh38 |
| NC_000003.11:g.10188208G>A , CM000665.1:g.10188208G>A | GRCh37 |
| NC_000003.10:g.10163208G>A | NCBI36 |
| NG_008212.3:g.9890G>A , LRG_322:g.9890G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*28G>A | ENSP00000512434.1:n.*28G>A | |
| ENST00000696143.1:c.600-3263G>A | ENSP00000512435.1:n.600-3263G>A | |
| ENST00000696153.1:c.351G>A | ENSP00000512444.1:p.Trp117Ter | |
| ENST00000256474.3:c.351G>A MANE Select | ENSP00000256474.3:p.Trp117Ter | |
| ENST00000256474.2:c.351G>A | ENSP00000256474.2:p.Trp117Ter | |
| ENST00000345392.2:c.341-3263G>A | ENSP00000344757.2:n.341-3263G>A | |
| ENST00000477538.1:n.487G>A | ||
| NM_000551.3:c.351G>A , LRG_322t1:c.351G>A | NP_000542.1:p.Trp117Ter | |
| NM_198156.2:c.341-3263G>A | NP_937799.1:n.341-3263G>A | |
| XM_011534078.1:c.*28G>A | XP_011532380.1:n.*28G>A | |
| NM_001354723.1:c.*18-3263G>A | NP_001341652.1:n.*18-3263G>A | |
| NM_000551.4:c.351G>A MANE Select | NP_000542.1:p.Trp117Ter | |
| NM_001354723.2:c.*18-3263G>A | NP_001341652.1:n.*18-3263G>A | |
| NM_198156.3:c.341-3263G>A | NP_937799.1:n.341-3263G>A |