Linked Data
ClinVar Variation Id:
2279115
ClinVar RCV Id:
RCV004135451
dbSNP Id:
rs1172485356
gnomAD v4:
22-36564747-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36564747C>A , CM000684.2:g.36564747C>A | GRCh38 |
| NC_000022.10:g.36960794C>A , CM000684.1:g.36960794C>A | GRCh37 |
| NC_000022.9:g.35290740C>A | NCBI36 |
| NG_031861.1:g.142897G>T | |
| NG_031861.2:g.143112G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300105.7:c.576G>T MANE Select | ENSP00000300105.6:p.Met192Ile | |
| ENST00000300105.6:c.576G>T | ENSP00000300105.6:p.Met192Ile | |
| NM_006078.3:c.576G>T | NP_006069.1:p.Met192Ile | |
| NM_006078.4:c.576G>T | NP_006069.1:p.Met192Ile | |
| XM_017028531.2:c.318G>T | XP_016884020.1:p.Met106Ile | |
| NM_001379051.1:c.507G>T | NP_001365980.1:p.Met169Ile | |
| NM_006078.5:c.576G>T MANE Select | NP_006069.1:p.Met192Ile | |
| NR_166440.1:n.1942G>T |