Linked Data
dbSNP Id:
rs875622
gnomAD v2:
19-16467759-A-G
gnomAD v3:
19-16356948-A-G
gnomAD v4:
19-16356948-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.16356948A>G , CM000681.2:g.16356948A>G | GRCh38 |
| NC_000019.9:g.16467759A>G , CM000681.1:g.16467759A>G | GRCh37 |
| NC_000019.8:g.16328759A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000455140.7:c.2587-1097T>C MANE Select | ENSP00000393313.1:n.2587-1097T>C | |
| ENST00000455140.6:c.2587-1097T>C | ENSP00000393313.1:n.2587-1097T>C | |
| ENST00000594851.5:c.69-1097T>C | ||
| ENST00000602022.5:c.*189-1097T>C | ENSP00000471981.1:n.*189-1097T>C | |
| NM_001258374.1:c.2587-1097T>C | NP_001245303.1:n.2587-1097T>C | |
| NR_047665.1:n.2521-1097T>C | ||
| XM_017027086.2:c.2635-1097T>C | XP_016882575.1:n.2635-1097T>C | |
| XM_017027087.2:c.2712T>C | XP_016882576.1:p.Ser904= | |
| XM_017027088.2:c.2605T>C | XP_016882577.1:p.Cys869Arg | |
| XM_017027089.2:c.2528-1097T>C | XP_016882578.1:n.2528-1097T>C | |
| XM_017027090.2:c.2248-1097T>C | XP_016882579.1:n.2248-1097T>C | |
| XM_017027091.2:c.2381-1097T>C | XP_016882580.1:n.2381-1097T>C | |
| NM_001258374.2:c.2587-1097T>C | NP_001245303.1:n.2587-1097T>C | |
| NM_001258374.3:c.2587-1097T>C MANE Select | NP_001245303.1:n.2587-1097T>C | |
| NR_047665.2:n.2479-1097T>C |