Linked Data
ClinVar Variation Id:
223091
ClinVar RCV Id:
RCV000235885
dbSNP Id:
rs782092363
ExAC:
3:53264628 G / A
gnomAD v2:
3-53264628-G-A
gnomAD v3:
3-53230612-G-A
gnomAD v4:
3-53230612-G-A
PubMed:
PMID:27259054
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53230612G>A , CM000665.2:g.53230612G>A | GRCh38 |
| NC_000003.11:g.53264628G>A , CM000665.1:g.53264628G>A | GRCh37 |
| NC_000003.10:g.53239668G>A | NCBI36 |
| NG_027815.1:g.30503C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462138.6:c.952C>T MANE Select | ENSP00000417773.1:p.Arg318Cys | |
| ENST00000296289.10:c.454C>T | ENSP00000296289.7:p.Arg152Cys | |
| ENST00000423516.5:c.976C>T | ENSP00000391481.1:p.Arg326Cys | |
| ENST00000423525.6:c.952C>T | ENSP00000405455.2:p.Arg318Cys | |
| ENST00000450814.6:c.*380C>T | ENSP00000413503.2:n.*380C>T | |
| ENST00000460343.5:n.4261C>T | ||
| ENST00000461139.5:n.953C>T | ||
| ENST00000462138.5:c.952C>T | ENSP00000417773.1:p.Arg318Cys | |
| ENST00000469678.1:c.959C>T | ENSP00000418340.1:p.Pro320Leu | |
| NM_001064.3:c.952C>T | NP_001055.1:p.Arg318Cys | |
| NM_001135055.2:c.952C>T | NP_001128527.1:p.Arg318Cys | |
| NM_001258028.1:c.976C>T | NP_001244957.1:p.Arg326Cys | |
| NR_047580.1:n.1014C>T | ||
| XM_011534054.1:c.976C>T | XP_011532356.1:p.Arg326Cys | |
| XM_011534055.1:c.454C>T | XP_011532357.1:p.Arg152Cys | |
| XM_011534055.2:c.454C>T | XP_011532357.1:p.Arg152Cys | |
| NM_001064.4:c.952C>T MANE Select | NP_001055.1:p.Arg318Cys | |
| NM_001135055.3:c.952C>T | NP_001128527.1:p.Arg318Cys | |
| NM_001258028.2:c.976C>T | NP_001244957.1:p.Arg326Cys | |
| NR_047580.2:n.922C>T |