Linked Data
ClinVar Variation Id:
318465
dbSNP Id:
rs114458562
ExAC:
16:23404585 G / A
gnomAD v2:
16-23404585-G-A
gnomAD v3:
16-23393264-G-A
gnomAD v4:
16-23393264-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23393264G>A , CM000678.2:g.23393264G>A | GRCh38 |
| NC_000016.9:g.23404585G>A , CM000678.1:g.23404585G>A | GRCh37 |
| NC_000016.8:g.23312086G>A | NCBI36 |
| NG_021287.1:g.64928C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307149.10:c.1971C>T MANE Select | ENSP00000305442.5:p.His657= | |
| ENST00000307149.9:c.1971C>T | ENSP00000305442.5:p.His657= | |
| ENST00000561854.1:c.55C>T | ||
| ENST00000563164.1:c.29C>T | ||
| ENST00000566364.1:n.318C>T | ||
| ENST00000569635.1:n.59+1624C>T | ||
| NM_153603.3:c.1971C>T | NP_705831.1:p.His657= | |
| XR_429680.1:n.2187C>T | ||
| XM_017023870.1:c.1776C>T | XP_016879359.1:p.His592= | |
| XR_002957852.1:n.2192C>T | ||
| XR_429680.2:n.2192C>T | ||
| NM_153603.4:c.1971C>T MANE Select | NP_705831.1:p.His657= |