Linked Data
ClinVar Variation Id:
16785
dbSNP Id:
rs121913021
ExAC:
19:45855838 G / A
gnomAD v2:
19-45855838-G-A
gnomAD v3:
19-45352580-G-A
gnomAD v4:
19-45352580-G-A
COSMIC:
COSM5796092
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45352580G>A , CM000681.2:g.45352580G>A | GRCh38 |
| NC_000019.9:g.45855838G>A , CM000681.1:g.45855838G>A | GRCh37 |
| NC_000019.8:g.50547678G>A | NCBI36 |
| NG_007067.2:g.23008C>T , LRG_461:g.23008C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.1972C>T | ENSP00000375808.4:p.Arg658Cys | |
| ENST00000682414.1:c.1972C>T | ENSP00000507019.1:p.Arg658Cys | |
| ENST00000682508.1:n.2001C>T | ||
| ENST00000684218.1:c.*1230C>T | ENSP00000507804.1:n.*1230C>T | |
| ENST00000684264.1:n.1528C>T | ||
| ENST00000684407.1:c.1849C>T | ENSP00000507775.1:p.Arg617Cys | |
| ENST00000684458.1:c.*458C>T | ENSP00000508260.1:n.*458C>T | |
| ENST00000684468.1:n.1684C>T | ||
| ENST00000391945.10:c.1972C>T MANE Select | ENSP00000375809.4:p.Arg658Cys | |
| ENST00000646507.1:n.2069C>T | ||
| ENST00000391941.6:c.1900C>T | ENSP00000375805.2:p.Arg634Cys | |
| ENST00000391942.6:n.1143C>T | ||
| ENST00000391944.7:c.1738C>T | ENSP00000375808.3:p.Arg580Cys | |
| ENST00000391945.8:c.1972C>T | ENSP00000375809.3:p.Arg658Cys | |
| ENST00000588652.5:n.2060C>T | ||
| NM_000400.3:c.1972C>T , LRG_461t1:c.1972C>T | NP_000391.1:p.Arg658Cys | |
| XM_011526611.1:c.1894C>T | XP_011524913.1:p.Arg632Cys | |
| XM_011526611.2:c.1894C>T | XP_011524913.1:p.Arg632Cys | |
| XM_017026467.1:c.1849C>T | XP_016881956.1:p.Arg617Cys | |
| XR_001753633.2:n.2019C>T | ||
| XR_001753634.2:n.1955C>T | ||
| NM_000400.4:c.1972C>T MANE Select | NP_000391.1:p.Arg658Cys |