Linked Data
ClinVar Variation Id:
16792
ClinVar RCV Id:
RCV000018283
RCV000255624
RCV000677676
RCV000763052
RCV001199920
RCV001449816
RCV004532382
dbSNP Id:
rs121913026
ExAC:
19:45855493 G / A
gnomAD v2:
19-45855493-G-A
gnomAD v3:
19-45352235-G-A
gnomAD v4:
19-45352235-G-A
PubMed:
PMID:7920640
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352235G>A , CM000681.2:g.45352235G>A | GRCh38 |
| NC_000019.9:g.45855493G>A , CM000681.1:g.45855493G>A | GRCh37 |
| NC_000019.8:g.50547333G>A | NCBI36 |
| NG_007067.2:g.23353C>T , LRG_461:g.23353C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.2164C>T | ENSP00000375808.4:p.Arg722Trp | |
| ENST00000682414.1:c.2164C>T | ENSP00000507019.1:p.Arg722Trp | |
| ENST00000682508.1:n.2193C>T | ||
| ENST00000684218.1:c.*1422C>T | ENSP00000507804.1:n.*1422C>T | |
| ENST00000684264.1:n.1720C>T | ||
| ENST00000684407.1:c.2041C>T | ENSP00000507775.1:p.Arg681Trp | |
| ENST00000684458.1:c.*650C>T | ENSP00000508260.1:n.*650C>T | |
| ENST00000684468.1:n.1876C>T | ||
| ENST00000391945.10:c.2164C>T MANE Select | ENSP00000375809.4:p.Arg722Trp | |
| ENST00000646507.1:n.2261C>T | ||
| ENST00000391941.6:c.2092C>T | ENSP00000375805.2:p.Arg698Trp | |
| ENST00000391942.6:n.1335C>T | ||
| ENST00000391944.7:c.1930C>T | ENSP00000375808.3:p.Arg644Trp | |
| ENST00000391945.8:c.2164C>T | ENSP00000375809.3:p.Arg722Trp | |
| ENST00000588652.5:n.2252C>T | ||
| NM_000400.3:c.2164C>T , LRG_461t1:c.2164C>T | NP_000391.1:p.Arg722Trp | |
| XM_011526611.1:c.2086C>T | XP_011524913.1:p.Arg696Trp | |
| XM_011526611.2:c.2086C>T | XP_011524913.1:p.Arg696Trp | |
| XM_017026467.1:c.2041C>T | XP_016881956.1:p.Arg681Trp | |
| XR_001753633.2:n.2211C>T | ||
| XR_001753634.2:n.2147C>T | ||
| NM_000400.4:c.2164C>T MANE Select | NP_000391.1:p.Arg722Trp |