Linked Data
ClinVar Variation Id:
30850
ClinVar RCV Id:
RCV000023835
dbSNP Id:
rs387907030
gnomAD v4:
9-128946082-G-C
PubMed:
PMID:22242004
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128946082G>C , CM000671.2:g.128946082G>C | GRCh38 |
| NC_000009.11:g.131708361G>C , CM000671.1:g.131708361G>C | GRCh37 |
| NC_000009.10:g.130748182G>C | NCBI36 |
| NG_017009.1:g.6652C>G , LRG_744:g.6652C>G | |
| NG_033111.1:g.3390G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372586.4:c.1222C>G MANE Select | ENSP00000361667.3:p.His408Asp | |
| ENST00000372586.3:c.1222C>G | ENSP00000361667.3:p.His408Asp | |
| ENST00000482796.1:c.39-3107G>C | ENSP00000417556.2:n.39-3107G>C | |
| NM_014908.3:c.1222C>G , LRG_744t1:c.1222C>G | NP_055723.1:p.His408Asp | |
| NM_014908.4:c.1222C>G MANE Select | NP_055723.1:p.His408Asp |