Linked Data
ClinVar Variation Id:
402155
ClinVar RCV Id:
RCV000454346
dbSNP Id:
rs771882905
ExAC:
20:18143317 G / A
gnomAD v2:
20-18143317-G-A
gnomAD v3:
20-18162673-G-A
gnomAD v4:
20-18162673-G-A
COSMIC:
COSM4096862
PubMed:
PMID:26539891
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.18162673G>A , CM000682.2:g.18162673G>A | GRCh38 |
| NC_000020.10:g.18143317G>A , CM000682.1:g.18143317G>A | GRCh37 |
| NC_000020.9:g.18091317G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000688188.1:c.1396G>A MANE Select | ENSP00000508684.1:p.Glu466Lys | |
| ENST00000377681.8:c.1399G>A | ENSP00000366909.3:p.Glu467Lys | |
| ENST00000435364.8:c.1399G>A | ENSP00000392318.2:p.Glu467Lys | |
| ENST00000464792.2:c.1399G>A | ENSP00000424752.2:p.Glu467Lys | |
| ENST00000676935.1:c.1399G>A | ENSP00000503493.1:p.Glu467Lys | |
| ENST00000676992.1:c.*677G>A | ENSP00000503780.1:n.*677G>A | |
| ENST00000677174.1:c.1399G>A | ENSP00000503109.1:p.Glu467Lys | |
| ENST00000677266.1:c.1399G>A | ENSP00000504050.1:p.Glu467Lys | |
| ENST00000677573.1:c.1396G>A | ENSP00000503522.1:p.Glu466Lys | |
| ENST00000677610.1:c.1396G>A | ENSP00000504748.1:p.Glu466Lys | |
| ENST00000678772.1:c.1399G>A | ENSP00000504276.1:p.Glu467Lys | |
| ENST00000678777.1:c.1396G>A | ENSP00000504321.1:p.Glu466Lys | |
| ENST00000377681.7:c.1396G>A | ENSP00000366909.2:p.Glu466Lys | |
| ENST00000435364.7:c.1399G>A | ENSP00000392318.2:p.Glu467Lys | |
| ENST00000489634.2:c.1015G>A | ENSP00000425909.2:p.Glu339Lys | |
| NM_020536.4:c.1399G>A | NP_065397.3:p.Glu467Lys | |
| NR_028402.2:n.1274G>A | ||
| NM_001384192.3:c.1399G>A | NP_001371121.2:p.Glu467Lys | |
| NM_001392069.1:c.1399G>A | NP_001378998.1:p.Glu467Lys | |
| NM_001392070.1:c.1399G>A | NP_001378999.1:p.Glu467Lys | |
| NM_001392071.1:c.1399G>A | NP_001379000.1:p.Glu467Lys | |
| NM_001392072.1:c.1399G>A | NP_001379001.1:p.Glu467Lys | |
| NM_001392073.1:c.1396G>A MANE Select | NP_001379002.1:p.Glu466Lys | |
| NM_001392074.1:c.1396G>A | NP_001379003.1:p.Glu466Lys | |
| NM_001392075.1:c.1396G>A | NP_001379004.1:p.Glu466Lys | |
| NM_001392076.1:c.1396G>A | NP_001379005.1:p.Glu466Lys | |
| NM_001392077.1:c.1396G>A | NP_001379006.1:p.Glu466Lys | |
| NM_001392078.1:c.1396G>A | NP_001379007.1:p.Glu466Lys | |
| NM_001392079.1:c.1399G>A | NP_001379008.1:p.Glu467Lys | |
| NM_001392080.1:c.1396G>A | NP_001379009.1:p.Glu466Lys | |
| NM_001392081.1:c.1399G>A | NP_001379010.1:p.Glu467Lys | |
| NM_020536.7:c.1399G>A | NP_065397.4:p.Glu467Lys | |
| NR_028402.3:n.1274G>A |