Linked Data
dbSNP Id:
rs749155129
ExAC:
8:16850677 C / T
gnomAD v3:
8-16993168-C-T
gnomAD v4:
8-16993168-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993168C>T , CM000670.2:g.16993168C>T | GRCh38 |
| NC_000008.10:g.16850677C>T , CM000670.1:g.16850677C>T | GRCh37 |
| NC_000008.9:g.16895048C>T | NCBI36 |
| NG_015978.1:g.13998G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.540G>A MANE Select | ENSP00000180166.5:p.Arg180= | |
| ENST00000180166.5:c.540G>A | ENSP00000180166.5:p.Arg180= | |
| ENST00000519941.1:c.244G>A | ||
| NM_019851.2:c.540G>A | NP_062825.1:p.Arg180= | |
| NM_019851.3:c.540G>A MANE Select | NP_062825.1:p.Arg180= |