Linked Data
dbSNP Id:
rs770615093
ExAC:
16:2035845 T / G
gnomAD v2:
16-2035845-T-G
gnomAD v4:
16-1985844-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985844T>G , CM000678.2:g.1985844T>G | GRCh38 |
| NC_000016.9:g.2035845T>G , CM000678.1:g.2035845T>G | GRCh37 |
| NC_000016.8:g.1975846T>G | NCBI36 |
| NG_016288.1:g.6696T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.231-22T>G | ENSP00000455885.1:n.231-22T>G | |
| ENST00000248114.7:c.456-22T>G MANE Select | ENSP00000248114.6:n.456-22T>G | |
| ENST00000248114.6:c.456-22T>G | ENSP00000248114.6:n.456-22T>G | |
| ENST00000565658.1:n.613-22T>G | ||
| ENST00000567719.1:c.231-22T>G | ENSP00000455885.1:n.231-22T>G | |
| ENST00000569451.1:c.259-22T>G | ENSP00000456432.1:n.259-22T>G | |
| NM_005262.2:c.456-22T>G | NP_005253.3:n.456-22T>G | |
| NM_005262.3:c.456-22T>G MANE Select | NP_005253.3:n.456-22T>G |