Linked Data
dbSNP Id:
rs1169236755
gnomAD v2:
19-1104043-A-G
gnomAD v3:
19-1104044-A-G
gnomAD v4:
19-1104044-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104044A>G , CM000681.2:g.1104044A>G | GRCh38 |
| NC_000019.9:g.1104043A>G , CM000681.1:g.1104043A>G | GRCh37 |
| NC_000019.8:g.1055043A>G | NCBI36 |
| NG_050621.1:g.5119A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706713.1:c.1A>G | ENSP00000516510.1:p.Met1Val | |
| ENST00000354171.13:c.1A>G MANE Select | ENSP00000346103.7:p.Met1Val | |
| ENST00000589115.6:c.1A>G | ENSP00000466872.3:p.Met1Val | |
| ENST00000354171.12:c.1A>G | ENSP00000346103.7:p.Met1Val | |
| ENST00000589115.5:c.1A>G | ENSP00000466872.2:p.Met1Val | |
| ENST00000616066.4:c.1A>G | ENSP00000485000.1:p.Met1Val | |
| NM_001039847.2:c.1A>G | NP_001034936.1:p.Met1Val | |
| NM_002085.4:c.1A>G | NP_002076.2:p.Met1Val | |
| NM_001039847.3:c.1A>G | NP_001034936.1:p.Met1Val | |
| NM_002085.5:c.1A>G MANE Select | NP_002076.2:p.Met1Val |