Linked Data
ClinVar Variation Id:
320418
dbSNP Id:
rs770515591
ExAC:
16:72045938 C / T
gnomAD v2:
16-72045938-C-T
gnomAD v3:
16-72012039-C-T
gnomAD v4:
16-72012039-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.72012039C>T , CM000678.2:g.72012039C>T | GRCh38 |
| NC_000016.9:g.72045938C>T , CM000678.1:g.72045938C>T | GRCh37 |
| NC_000016.8:g.70603439C>T | NCBI36 |
| NG_016271.1:g.8296C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000219240.9:c.22-11C>T MANE Select | ENSP00000219240.4:n.22-11C>T | |
| ENST00000219240.8:c.22-11C>T | ENSP00000219240.4:n.22-11C>T | |
| ENST00000571288.6:c.9-11C>T | ||
| ENST00000572887.5:c.22-11C>T | ENSP00000461848.1:n.22-11C>T | |
| ENST00000574309.5:c.18-11C>T | ||
| ENST00000576145.1:c.-63-11C>T | ENSP00000464333.1:n.-63-11C>T | |
| NM_001361.4:c.22-11C>T | NP_001352.2:n.22-11C>T | |
| XM_005255827.2:c.-63-11C>T | XP_005255884.1:n.-63-11C>T | |
| XM_005255827.4:c.-63-11C>T | XP_005255884.1:n.-63-11C>T | |
| XM_017022990.2:c.-407-11C>T | XP_016878479.1:n.-407-11C>T | |
| NM_001361.5:c.22-11C>T MANE Select | NP_001352.2:n.22-11C>T |