Linked Data
ClinVar Variation Id:
316200
ClinVar RCV Id:
RCV000320405
dbSNP Id:
rs1049518
gnomAD v2:
15-45653367-G-A
gnomAD v3:
15-45361169-G-A
gnomAD v4:
15-45361169-G-A
ERepo:
CA10647041/MONDO:0012996/025
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.45361169G>A , CM000677.2:g.45361169G>A | GRCh38 |
| NC_000015.9:g.45653367G>A , CM000677.1:g.45653367G>A | GRCh37 |
| NC_000015.8:g.43440659G>A | NCBI36 |
| NG_011674.1:g.22614C>T | |
| NG_011674.2:g.46149C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000396659.8:c.*940C>T MANE Select | ENSP00000379895.3:n.*940C>T | |
| ENST00000676090.1:c.*2943C>T | ENSP00000501630.1:n.*2943C>T | |
| ENST00000396659.7:c.*940C>T | ENSP00000379895.3:n.*940C>T | |
| ENST00000558362.5:n.3868C>T | ||
| NM_001482.2:c.*940C>T | NP_001473.1:n.*940C>T | |
| XM_011521450.1:c.*940C>T | XP_011519752.1:n.*940C>T | |
| XM_011521451.1:c.*940C>T | XP_011519753.1:n.*940C>T | |
| NM_001321015.1:c.*940C>T | NP_001307944.1:n.*940C>T | |
| NM_001482.3:c.*940C>T MANE Select | NP_001473.1:n.*940C>T | |
| NM_001321015.2:c.*940C>T | NP_001307944.1:n.*940C>T |