Linked Data
dbSNP Id:
rs745449861
ExAC:
16:2035849 C / T
gnomAD v2:
16-2035849-C-T
gnomAD v4:
16-1985848-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.1985848C>T , CM000678.2:g.1985848C>T | GRCh38 |
| NC_000016.9:g.2035849C>T , CM000678.1:g.2035849C>T | GRCh37 |
| NC_000016.8:g.1975850C>T | NCBI36 |
| NG_016288.1:g.6700C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000567719.2:c.231-18C>T | ENSP00000455885.1:n.231-18C>T | |
| ENST00000248114.7:c.456-18C>T MANE Select | ENSP00000248114.6:n.456-18C>T | |
| ENST00000248114.6:c.456-18C>T | ENSP00000248114.6:n.456-18C>T | |
| ENST00000565658.1:n.613-18C>T | ||
| ENST00000567719.1:c.231-18C>T | ENSP00000455885.1:n.231-18C>T | |
| ENST00000569451.1:c.259-18C>T | ENSP00000456432.1:n.259-18C>T | |
| NM_005262.2:c.456-18C>T | NP_005253.3:n.456-18C>T | |
| NM_005262.3:c.456-18C>T MANE Select | NP_005253.3:n.456-18C>T |