Linked Data
dbSNP Id:
rs765996806
ExAC:
19:1104091 G / A
gnomAD v2:
19-1104091-G-A
gnomAD v4:
19-1104092-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104092G>A , CM000681.2:g.1104092G>A | GRCh38 |
| NC_000019.9:g.1104091G>A , CM000681.1:g.1104091G>A | GRCh37 |
| NC_000019.8:g.1055091G>A | NCBI36 |
| NG_050621.1:g.5167G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593032.6:c.-33G>A | ENSP00000465828.4:n.-33G>A | |
| ENST00000706713.1:c.49G>A | ENSP00000516510.1:p.Gly17Arg | |
| ENST00000706714.1:c.-33G>A | ENSP00000516511.1:n.-33G>A | |
| ENST00000354171.13:c.49G>A MANE Select | ENSP00000346103.7:p.Gly17Arg | |
| ENST00000589115.6:c.49G>A | ENSP00000466872.3:p.Gly17Arg | |
| ENST00000354171.12:c.49G>A | ENSP00000346103.7:p.Gly17Arg | |
| ENST00000588919.5:c.-33G>A | ENSP00000464989.3:n.-33G>A | |
| ENST00000589115.5:c.49G>A | ENSP00000466872.2:p.Gly17Arg | |
| ENST00000593032.5:c.-33G>A | ENSP00000465828.3:n.-33G>A | |
| ENST00000611653.4:c.-33G>A | ENSP00000483655.1:n.-33G>A | |
| ENST00000616066.4:c.49G>A | ENSP00000485000.1:p.Gly17Arg | |
| NM_001039847.2:c.49G>A | NP_001034936.1:p.Gly17Arg | |
| NM_002085.4:c.49G>A | NP_002076.2:p.Gly17Arg | |
| NM_001039847.3:c.49G>A | NP_001034936.1:p.Gly17Arg | |
| NM_001367832.1:c.-33G>A | NP_001354761.1:n.-33G>A | |
| NM_002085.5:c.49G>A MANE Select | NP_002076.2:p.Gly17Arg |