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:
10480
ClinVar RCV Id:
RCV000011226
dbSNP Id:
rs140772352
gnomAD v2:
X-55057617-G-C
gnomAD v3:
X-55031184-G-C
gnomAD v4:
X-55031184-G-C
PubMed:
PMID:12663458
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.55031184G>C , CM000685.2:g.55031184G>C | GRCh38 |
| NC_000023.10:g.55057617G>C , CM000685.1:g.55057617G>C | GRCh37 |
| NC_000023.9:g.55074342G>C | NCBI36 |
| NG_008983.1:g.4881C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_011530785.1:c.61+1512G>C | XP_011529087.1:n.61+1512G>C | |
| XM_011530786.1:c.7+209G>C | XP_011529088.1:n.7+209G>C | |
| XM_011530785.2:c.61+1512G>C | XP_011529087.1:n.61+1512G>C | |
| XM_011530786.3:c.7+209G>C | XP_011529088.1:n.7+209G>C |