Linked Data
ClinVar Variation Id:
3657
ClinVar RCV Id:
RCV000003842
dbSNP Id:
rs121908048
gnomAD v4:
16-67940276-C-T
PubMed:
PMID:1859405
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940276C>T , CM000678.2:g.67940276C>T | GRCh38 |
| NC_000016.9:g.67974179C>T , CM000678.1:g.67974179C>T | GRCh37 |
| NC_000016.8:g.66531680C>T | NCBI36 |
| NG_009778.1:g.8837G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.951G>A MANE Select | ENSP00000264005.5:p.Met317Ile | |
| ENST00000264005.9:c.951G>A | ENSP00000264005.5:p.Met317Ile | |
| ENST00000570369.5:c.156-202G>A | ||
| ENST00000570980.1:c.735G>A | ENSP00000464651.1:p.Met245Ile | |
| ENST00000573538.5:c.689G>A | ENSP00000463220.1:n.689G>A | |
| NM_000229.1:c.951G>A | NP_000220.1:p.Met317Ile | |
| NM_000229.2:c.951G>A MANE Select | NP_000220.1:p.Met317Ile |