Linked Data
dbSNP Id:
rs117559033
gnomAD v2:
16-25944544-C-T
gnomAD v3:
16-25933223-C-T
gnomAD v4:
16-25933223-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.25933223C>T , CM000678.2:g.25933223C>T | GRCh38 |
| NC_000016.9:g.25944544C>T , CM000678.1:g.25944544C>T | GRCh37 |
| NC_000016.8:g.25852045C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000331351.6:c.735-202389C>T MANE Select | ENSP00000330606.5:n.735-202389C>T | |
| ENST00000331351.5:c.735-202389C>T | ENSP00000330606.5:n.735-202389C>T | |
| ENST00000475436.1:n.176+46302C>T | ||
| NM_006040.2:c.735-202389C>T | NP_006031.2:n.735-202389C>T | |
| NM_006040.3:c.735-202389C>T MANE Select | NP_006031.2:n.735-202389C>T |