Linked Data
dbSNP Id:
rs757072657
ExAC:
8:16850735 G / A
gnomAD v2:
8-16850735-G-A
gnomAD v4:
8-16993226-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.16993226G>A , CM000670.2:g.16993226G>A | GRCh38 |
| NC_000008.10:g.16850735G>A , CM000670.1:g.16850735G>A | GRCh37 |
| NC_000008.9:g.16895106G>A | NCBI36 |
| NG_015978.1:g.13940C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000180166.6:c.482C>T MANE Select | ENSP00000180166.5:p.Thr161Ile | |
| ENST00000180166.5:c.482C>T | ENSP00000180166.5:p.Thr161Ile | |
| ENST00000519941.1:c.186C>T | ||
| NM_019851.2:c.482C>T | NP_062825.1:p.Thr161Ile | |
| NM_019851.3:c.482C>T MANE Select | NP_062825.1:p.Thr161Ile |