Linked Data
ClinVar Variation Id:
14599
dbSNP Id:
rs59977263
gnomAD v4:
17-41624206-C-T
PubMed:
PMID:11874497
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41624206C>T , CM000679.2:g.41624206C>T | GRCh38 |
| NC_000017.10:g.39780458C>T , CM000679.1:g.39780458C>T | GRCh37 |
| NC_000017.9:g.37033984C>T | NCBI36 |
| NG_008625.1:g.5425G>A | |
| NG_009090.2:g.167507G>A , LRG_401:g.167507G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000311208.13:c.304G>A MANE Select | ENSP00000308452.8:p.Val102Met | |
| ENST00000311208.12:c.304G>A | ENSP00000308452.8:p.Val102Met | |
| ENST00000463128.5:c.-312G>A | ENSP00000468672.1:n.-312G>A | |
| ENST00000491673.1:n.370G>A | ||
| ENST00000493253.5:n.91G>A | ||
| ENST00000540235.5:c.72-15G>A | ENSP00000441751.2:n.72-15G>A | |
| ENST00000577817.3:c.259G>A | ENSP00000467418.1:p.Val87Met | |
| NM_000422.2:c.304G>A | NP_000413.1:p.Val102Met | |
| NM_000422.3:c.304G>A MANE Select | NP_000413.1:p.Val102Met |