Linked Data
dbSNP Id:
rs140711597
gnomAD v2:
3-48469441-C-G
gnomAD v3:
3-48428032-C-G
gnomAD v4:
3-48428032-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.48428032C>G , CM000665.2:g.48428032C>G | GRCh38 |
| NC_000003.11:g.48469441C>G , CM000665.1:g.48469441C>G | GRCh37 |
| NC_000003.10:g.48444445C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000296440.11:c.-60+1976G>C MANE Select | ENSP00000296440.6:n.-60+1976G>C | |
| ENST00000296440.10:c.-60+1976G>C | ENSP00000296440.6:n.-60+1976G>C | |
| ENST00000358536.8:c.-60+1221G>C | ENSP00000351338.4:n.-60+1221G>C | |
| ENST00000466353.1:n.229+1221G>C | ||
| NM_001130082.2:c.-60+1976G>C | NP_001123554.1:n.-60+1976G>C | |
| NM_002673.5:c.-60+1221G>C | NP_002664.2:n.-60+1221G>C | |
| XM_011533832.1:c.-2758G>C | XP_011532134.1:n.-2758G>C | |
| XM_011533833.1:c.-60+1976G>C | XP_011532135.1:n.-60+1976G>C | |
| XM_011533834.1:c.-60+1221G>C | XP_011532136.1:n.-60+1221G>C | |
| XM_011533835.1:c.-60+2190G>C | XP_011532137.1:n.-60+2190G>C | |
| XM_011533836.1:c.-60+2091G>C | XP_011532138.1:n.-60+2091G>C | |
| XM_011533837.1:c.-60+1721G>C | XP_011532139.1:n.-60+1721G>C | |
| XM_011534352.1:c.127-561C>G | XP_011532654.1:n.127-561C>G | |
| XR_940457.1:n.784G>C | ||
| XR_940458.1:n.791G>C | ||
| XM_011533833.2:c.-60+1976G>C | XP_011532135.1:n.-60+1976G>C | |
| XM_011533837.2:c.-60+1721G>C | XP_011532139.1:n.-60+1721G>C | |
| XM_017006630.1:c.-60+1940G>C | XP_016862119.1:n.-60+1940G>C | |
| XM_017006631.1:c.-2758G>C | XP_016862120.1:n.-2758G>C | |
| XM_024453600.1:c.-2758G>C | XP_024309368.1:n.-2758G>C | |
| XR_001740177.2:n.1173G>C | ||
| XR_940457.2:n.1174G>C | ||
| XR_940458.2:n.1180G>C | ||
| NM_001130082.3:c.-60+1976G>C MANE Select | NP_001123554.1:n.-60+1976G>C | |
| NM_002673.6:c.-60+1221G>C | NP_002664.2:n.-60+1221G>C |