Linked Data
dbSNP Id:
rs12443621
gnomAD v2:
16-52548037-A-G
gnomAD v3:
16-52514125-A-G
gnomAD v4:
16-52514125-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.52514125A>G , CM000678.2:g.52514125A>G | GRCh38 |
| NC_000016.9:g.52548037A>G , CM000678.1:g.52548037A>G | GRCh37 |
| NC_000016.8:g.51105538A>G | NCBI36 |
| NG_012623.1:g.38678T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000219746.14:c.87+32512T>C MANE Select | ENSP00000219746.9:n.87+32512T>C | |
| ENST00000219746.13:c.87+32512T>C | ENSP00000219746.9:n.87+32512T>C | |
| ENST00000407228.7:c.75+5281T>C | ENSP00000385705.3:n.75+5281T>C | |
| ENST00000563091.1:c.-22+33243T>C | ENSP00000457401.1:n.-22+33243T>C | |
| ENST00000568436.1:c.87+32512T>C | ENSP00000463843.1:n.87+32512T>C | |
| NM_001080430.2:c.87+32512T>C | NP_001073899.2:n.87+32512T>C | |
| NM_001146188.1:c.75+5281T>C | NP_001139660.1:n.75+5281T>C | |
| XM_005255892.2:c.87+32512T>C | XP_005255949.1:n.87+32512T>C | |
| XM_005255893.2:c.75+5281T>C | XP_005255950.1:n.75+5281T>C | |
| NM_001080430.3:c.87+32512T>C | NP_001073899.2:n.87+32512T>C | |
| NM_001146188.2:c.75+5281T>C | NP_001139660.1:n.75+5281T>C | |
| XM_005255892.3:c.87+32512T>C | XP_005255949.1:n.87+32512T>C | |
| XM_017023142.1:c.75+5281T>C | XP_016878631.1:n.75+5281T>C | |
| XM_024450230.1:c.75+5281T>C | XP_024305998.1:n.75+5281T>C | |
| NM_001080430.4:c.87+32512T>C MANE Select | NP_001073899.2:n.87+32512T>C |