Linked Data
ClinVar Variation Id:
6178
dbSNP Id:
rs104894630
gnomAD v4:
17-10692805-G-A
PubMed:
PMID:11013136
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.10692805G>A , CM000679.2:g.10692805G>A | GRCh38 |
| NC_000017.10:g.10596122G>A , CM000679.1:g.10596122G>A | GRCh37 |
| NC_000017.9:g.10536847G>A | NCBI36 |
| NG_008228.2:g.9764C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000255390.10:c.521C>T MANE Select | ENSP00000255390.5:p.Pro174Leu | |
| ENST00000577335.2:c.*248C>T | ENSP00000464032.1:n.*248C>T | |
| ENST00000255390.9:c.521C>T | ENSP00000255390.5:p.Pro174Leu | |
| ENST00000577335.1:c.*248C>T | ENSP00000464032.1:n.*248C>T | |
| ENST00000577427.1:c.469+52C>T | ENSP00000463387.1:n.469+52C>T | |
| NM_004589.3:c.521C>T | NP_004580.1:p.Pro174Leu | |
| XM_005256751.2:c.188C>T | XP_005256808.1:p.Pro63Leu | |
| XM_005256751.4:c.188C>T | XP_005256808.1:p.Pro63Leu | |
| NM_004589.4:c.521C>T MANE Select | NP_004580.1:p.Pro174Leu |