Linked Data
ClinVar Variation Id:
12218
ClinVar RCV Id:
RCV000013002
dbSNP Id:
rs28934878
gnomAD v4:
20-3083099-A-G
PubMed:
PMID:14673472
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3083099A>G , CM000682.2:g.3083099A>G | GRCh38 |
| NC_000020.10:g.3063745A>G , CM000682.1:g.3063745A>G | GRCh37 |
| NC_000020.9:g.3011745A>G | NCBI36 |
| NG_008663.1:g.6626T>C , LRG_715:g.6626T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380293.3:c.200T>C MANE Select | ENSP00000369647.3:p.Val67Ala | |
| NM_000490.4:c.200T>C , LRG_715t1:c.200T>C | NP_000481.2:p.Val67Ala | |
| XM_011529267.1:c.200T>C | XP_011527569.1:p.Val67Ala | |
| XM_011529267.2:c.200T>C | XP_011527569.1:p.Val67Ala | |
| NM_000490.5:c.200T>C MANE Select | NP_000481.2:p.Val67Ala |