Linked Data
dbSNP Id:
rs184359086
ExAC:
11:116701444 C / T
gnomAD v2:
11-116701444-C-T
gnomAD v3:
11-116830728-C-T
gnomAD v4:
11-116830728-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116830728C>T , CM000673.2:g.116830728C>T | GRCh38 |
| NC_000011.9:g.116701444C>T , CM000673.1:g.116701444C>T | GRCh37 |
| NC_000011.8:g.116206654C>T | NCBI36 |
| NG_008949.1:g.5821C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.56-45C>T MANE Select | ENSP00000227667.2:n.56-45C>T | |
| ENST00000227667.7:c.56-45C>T | ENSP00000227667.2:n.56-45C>T | |
| ENST00000375345.3:c.110-45C>T | ENSP00000364494.1:n.110-45C>T | |
| ENST00000433777.5:c.56-45C>T | ENSP00000410614.1:n.56-45C>T | |
| ENST00000470144.1:n.88-45C>T | ||
| ENST00000630701.1:c.110-45C>T | ENSP00000486182.1:n.110-45C>T | |
| NM_000040.1:c.56-45C>T | NP_000031.1:n.56-45C>T | |
| NM_000040.2:c.56-45C>T | NP_000031.1:n.56-45C>T | |
| NM_000040.3:c.56-45C>T MANE Select | NP_000031.1:n.56-45C>T |