Linked Data
dbSNP Id:
rs1320860061
gnomAD v2:
19-1104090-T-C
gnomAD v3:
19-1104091-T-C
gnomAD v4:
19-1104091-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104091T>C , CM000681.2:g.1104091T>C | GRCh38 |
| NC_000019.9:g.1104090T>C , CM000681.1:g.1104090T>C | GRCh37 |
| NC_000019.8:g.1055090T>C | NCBI36 |
| NG_050621.1:g.5166T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000593032.6:c.-34T>C | ENSP00000465828.4:n.-34T>C | |
| ENST00000706713.1:c.48T>C | ENSP00000516510.1:p.Cys16= | |
| ENST00000706714.1:c.-34T>C | ENSP00000516511.1:n.-34T>C | |
| ENST00000354171.13:c.48T>C MANE Select | ENSP00000346103.7:p.Cys16= | |
| ENST00000589115.6:c.48T>C | ENSP00000466872.3:p.Cys16= | |
| ENST00000354171.12:c.48T>C | ENSP00000346103.7:p.Cys16= | |
| ENST00000588919.5:c.-34T>C | ENSP00000464989.3:n.-34T>C | |
| ENST00000589115.5:c.48T>C | ENSP00000466872.2:p.Cys16= | |
| ENST00000593032.5:c.-34T>C | ENSP00000465828.3:n.-34T>C | |
| ENST00000611653.4:c.-34T>C | ENSP00000483655.1:n.-34T>C | |
| ENST00000616066.4:c.48T>C | ENSP00000485000.1:p.Cys16= | |
| NM_001039847.2:c.48T>C | NP_001034936.1:p.Cys16= | |
| NM_002085.4:c.48T>C | NP_002076.2:p.Cys16= | |
| NM_001039847.3:c.48T>C | NP_001034936.1:p.Cys16= | |
| NM_001367832.1:c.-34T>C | NP_001354761.1:n.-34T>C | |
| NM_002085.5:c.48T>C MANE Select | NP_002076.2:p.Cys16= |