Linked Data
dbSNP Id:
rs1297630220
gnomAD v2:
19-1104038-C-T
gnomAD v3:
19-1104039-C-T
gnomAD v4:
19-1104039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.1104039C>T , CM000681.2:g.1104039C>T | GRCh38 |
| NC_000019.9:g.1104038C>T , CM000681.1:g.1104038C>T | GRCh37 |
| NC_000019.8:g.1055038C>T | NCBI36 |
| NG_050621.1:g.5114C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706713.1:c.-5C>T | ENSP00000516510.1:n.-5C>T | |
| ENST00000354171.13:c.-5C>T MANE Select | ENSP00000346103.7:n.-5C>T | |
| ENST00000589115.6:c.-5C>T | ENSP00000466872.3:n.-5C>T | |
| ENST00000354171.12:c.-5C>T | ENSP00000346103.7:n.-5C>T | |
| ENST00000589115.5:c.-5C>T | ENSP00000466872.2:n.-5C>T | |
| ENST00000616066.4:c.-5C>T | ENSP00000485000.1:n.-5C>T | |
| NM_001039847.2:c.-5C>T | NP_001034936.1:n.-5C>T | |
| NM_002085.4:c.-5C>T | NP_002076.2:n.-5C>T | |
| NM_001039847.3:c.-5C>T | NP_001034936.1:n.-5C>T | |
| NM_002085.5:c.-5C>T MANE Select | NP_002076.2:n.-5C>T |