Linked Data
ClinVar Variation Id:
10834
ClinVar RCV Id:
RCV000011581
dbSNP Id:
rs137853267
PubMed:
PMID:17847065
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.54465797T>C , CM000685.2:g.54465797T>C | GRCh38 |
| NC_000023.10:g.54492230T>C , CM000685.1:g.54492230T>C | GRCh37 |
| NC_000023.9:g.54508955T>C | NCBI36 |
| NG_008054.1:g.35370A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375135.4:c.1396A>G MANE Select | ENSP00000364277.3:p.Met466Val | |
| ENST00000375135.3:c.1396A>G | ENSP00000364277.3:p.Met466Val | |
| NM_004463.2:c.1396A>G | NP_004454.2:p.Met466Val | |
| NM_004463.3:c.1396A>G MANE Select | NP_004454.2:p.Met466Val |