Linked Data
ClinVar Variation Id:
636162
ClinVar RCV Id:
RCV000787809
dbSNP Id:
rs1238109100
gnomAD v2:
16-68679285-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68645382G>A , CM000678.2:g.68645382G>A | GRCh38 |
| NC_000016.9:g.68679285G>A , CM000678.1:g.68679285G>A | GRCh37 |
| NC_000016.8:g.67236786G>A | NCBI36 |
| NG_009096.1:g.6135G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264012.9:c.3G>A MANE Select | ENSP00000264012.4:p.Met1Ile | |
| ENST00000264012.8:c.3G>A | ENSP00000264012.4:p.Met1Ile | |
| ENST00000429102.6:c.3G>A | ENSP00000398485.2:p.Met1Ile | |
| ENST00000542274.5:c.3G>A | ENSP00000464021.1:p.Met1Ile | |
| NM_001793.4:c.3G>A | NP_001784.2:p.Met1Ile | |
| XM_011522800.1:c.3G>A | XP_011521102.1:p.Met1Ile | |
| NM_001317195.1:c.3G>A | NP_001304124.1:p.Met1Ile | |
| NM_001317196.1:c.-48G>A | NP_001304125.1:n.-48G>A | |
| NM_001793.5:c.3G>A | NP_001784.2:p.Met1Ile | |
| XM_011522800.3:c.3G>A | XP_011521102.1:p.Met1Ile | |
| NM_001793.6:c.3G>A MANE Select | NP_001784.2:p.Met1Ile | |
| NM_001317195.2:c.3G>A | NP_001304124.1:p.Met1Ile | |
| NM_001317196.2:c.-48G>A | NP_001304125.1:n.-48G>A | |
| NM_001317195.3:c.3G>A | NP_001304124.1:p.Met1Ile |