Linked Data
dbSNP Id:
rs1880669
ExAC:
3:133483696 T / C
gnomAD v2:
3-133483696-T-C
gnomAD v3:
3-133764852-T-C
gnomAD v4:
3-133764852-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133764852T>C , CM000665.2:g.133764852T>C | GRCh38 |
| NC_000003.11:g.133483696T>C , CM000665.1:g.133483696T>C | GRCh37 |
| NC_000003.10:g.134966386T>C | NCBI36 |
| NG_013080.1:g.23720T>C | |
| NG_013080.2:g.107855T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.1298-23T>C MANE Select | ENSP00000385834.3:n.1298-23T>C | |
| ENST00000402696.7:c.1298-23T>C | ENSP00000385834.3:n.1298-23T>C | |
| NM_001063.3:c.1298-23T>C | NP_001054.1:n.1298-23T>C | |
| XM_011513100.1:c.1298-23T>C | XP_011511402.1:n.1298-23T>C | |
| NM_001354703.1:c.1166-23T>C | NP_001341632.1:n.1166-23T>C | |
| NM_001354704.1:c.917-23T>C | NP_001341633.1:n.917-23T>C | |
| NM_001063.4:c.1298-23T>C MANE Select | NP_001054.2:n.1298-23T>C | |
| NM_001354703.2:c.1166-23T>C | NP_001341632.2:n.1166-23T>C | |
| NM_001354704.2:c.917-23T>C | NP_001341633.2:n.917-23T>C |