Linked Data
ClinVar Variation Id:
215068
dbSNP Id:
rs147844153
ExAC:
6:88228397 G / A
gnomAD v2:
6-88228397-G-A
gnomAD v3:
6-87518679-G-A
gnomAD v4:
6-87518679-G-A
COSMIC:
COSM3177844
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87518679G>A , CM000668.2:g.87518679G>A | GRCh38 |
| NC_000006.11:g.88228397G>A , CM000668.1:g.88228397G>A | GRCh37 |
| NC_000006.10:g.88285116G>A | NCBI36 |
| NG_008601.1:g.76339C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000451155.2:c.841C>T | ENSP00000389656.2:p.Arg281Cys | |
| ENST00000493269.2:n.1386C>T | ||
| ENST00000497828.2:n.3561C>T | ||
| ENST00000684790.1:c.*372C>T | ENSP00000509974.1:n.*372C>T | |
| ENST00000685069.1:c.427C>T | ENSP00000509876.1:p.Arg143Cys | |
| ENST00000685219.1:n.1402C>T | ||
| ENST00000685336.1:c.*789C>T | ENSP00000508757.1:n.*789C>T | |
| ENST00000685376.1:c.*488C>T | ENSP00000508661.1:n.*488C>T | |
| ENST00000685408.1:c.841C>T | ENSP00000509026.1:p.Arg281Cys | |
| ENST00000685701.1:c.427C>T | ENSP00000509573.1:p.Arg143Cys | |
| ENST00000685881.1:c.841C>T | ENSP00000510572.1:p.Arg281Cys | |
| ENST00000686142.1:c.841C>T | ENSP00000510793.1:p.Arg281Cys | |
| ENST00000686154.1:c.427C>T | ENSP00000508436.1:p.Arg143Cys | |
| ENST00000686196.1:n.1611C>T | ||
| ENST00000686284.1:c.427C>T | ENSP00000510099.1:p.Arg143Cys | |
| ENST00000686371.1:n.868C>T | ||
| ENST00000686407.1:c.427C>T | ENSP00000509880.1:p.Arg143Cys | |
| ENST00000686857.1:c.*282C>T | ENSP00000509934.1:n.*282C>T | |
| ENST00000686988.1:c.1464C>T | ENSP00000508830.1:n.1464C>T | |
| ENST00000687090.1:n.1731C>T | ||
| ENST00000687437.1:c.1366C>T | ENSP00000508968.1:p.Arg456Cys | |
| ENST00000687579.1:c.*412C>T | ENSP00000510257.1:n.*412C>T | |
| ENST00000687586.1:c.289C>T | ENSP00000508441.1:p.Arg97Cys | |
| ENST00000687729.1:c.784C>T | ENSP00000508582.1:p.Arg262Cys | |
| ENST00000687909.1:c.*776C>T | ENSP00000508659.1:n.*776C>T | |
| ENST00000688106.1:c.427C>T | ENSP00000509529.1:p.Arg143Cys | |
| ENST00000688391.1:n.1874C>T | ||
| ENST00000688532.1:c.289C>T | ENSP00000510320.1:p.Arg97Cys | |
| ENST00000688808.1:n.1872C>T | ||
| ENST00000688842.1:n.3840C>T | ||
| ENST00000689174.1:c.841C>T | ENSP00000510542.1:p.Arg281Cys | |
| ENST00000689206.1:c.427C>T | ENSP00000510495.1:p.Arg143Cys | |
| ENST00000689561.1:n.2382C>T | ||
| ENST00000689594.1:n.2358C>T | ||
| ENST00000689952.1:c.*704C>T | ENSP00000508977.1:n.*704C>T | |
| ENST00000690205.1:c.*1244C>T | ENSP00000508972.1:n.*1244C>T | |
| ENST00000690622.1:c.427C>T | ENSP00000508528.1:p.Arg143Cys | |
| ENST00000690705.1:c.*282C>T | ENSP00000509923.1:n.*282C>T | |
| ENST00000690884.1:c.*282C>T | ENSP00000509931.1:n.*282C>T | |
| ENST00000691205.1:n.2332C>T | ||
| ENST00000691238.1:c.*488C>T | ENSP00000510094.1:n.*488C>T | |
| ENST00000691533.1:n.1402C>T | ||
| ENST00000691634.1:n.1247C>T | ||
| ENST00000691725.1:c.1366C>T | ENSP00000509453.1:p.Arg456Cys | |
| ENST00000691815.1:c.*282C>T | ENSP00000509579.1:n.*282C>T | |
| ENST00000692270.1:c.*282C>T | ENSP00000510055.1:n.*282C>T | |
| ENST00000692394.1:c.145C>T | ENSP00000509567.1:p.Arg49Cys | |
| ENST00000692684.1:c.841C>T | ENSP00000509712.1:p.Arg281Cys | |
| ENST00000692843.1:c.*353C>T | ENSP00000509592.1:n.*353C>T | |
| ENST00000693327.1:c.841C>T | ENSP00000509195.1:p.Arg281Cys | |
| ENST00000693431.1:c.841C>T | ENSP00000509147.1:p.Arg281Cys | |
| ENST00000693605.1:c.*282C>T | ENSP00000510050.1:n.*282C>T | |
| ENST00000369536.10:c.1366C>T MANE Select | ENSP00000358549.5:p.Arg456Cys | |
| ENST00000369536.9:c.1366C>T | ENSP00000358549.5:p.Arg456Cys | |
| ENST00000497828.1:n.469C>T | ||
| NM_020320.3:c.1366C>T | NP_064716.2:p.Arg456Cys | |
| XM_005248735.3:c.841C>T | XP_005248792.2:p.Arg281Cys | |
| XM_005248736.3:c.841C>T | XP_005248793.2:p.Arg281Cys | |
| XM_005248737.3:c.841C>T | XP_005248794.2:p.Arg281Cys | |
| XM_011535947.1:c.1366C>T | XP_011534249.1:p.Arg456Cys | |
| XM_011535948.1:c.1366C>T | XP_011534250.1:p.Arg456Cys | |
| XM_011535949.1:c.1366C>T | XP_011534251.1:p.Arg456Cys | |
| XM_011535950.1:c.841C>T | XP_011534252.1:p.Arg281Cys | |
| XM_011535951.1:c.841C>T | XP_011534253.1:p.Arg281Cys | |
| XM_011535952.1:c.427C>T | XP_011534254.1:p.Arg143Cys | |
| XM_011535953.1:c.427C>T | XP_011534255.1:p.Arg143Cys | |
| XM_011535954.1:c.427C>T | XP_011534256.1:p.Arg143Cys | |
| XM_011535955.1:c.427C>T | XP_011534257.1:p.Arg143Cys | |
| XR_241848.1:n.1422C>T | ||
| NM_001318785.1:c.841C>T | NP_001305714.1:p.Arg281Cys | |
| NM_001350505.1:c.1366C>T | NP_001337434.1:p.Arg456Cys | |
| NM_001350506.1:c.841C>T | NP_001337435.1:p.Arg281Cys | |
| NM_001350507.1:c.841C>T | NP_001337436.1:p.Arg281Cys | |
| NM_001350508.1:c.841C>T | NP_001337437.1:p.Arg281Cys | |
| NM_001350509.1:c.841C>T | NP_001337438.1:p.Arg281Cys | |
| NM_001350510.1:c.841C>T | NP_001337439.1:p.Arg281Cys | |
| NM_001350511.1:c.841C>T | NP_001337440.1:p.Arg281Cys | |
| NM_020320.4:c.1366C>T | NP_064716.2:p.Arg456Cys | |
| NR_134857.1:n.1437C>T | ||
| NR_146738.1:n.1709C>T | ||
| NR_146739.1:n.1518C>T | ||
| NR_146740.1:n.1786C>T | ||
| NR_146741.1:n.1448C>T | ||
| NR_146742.1:n.1820C>T | ||
| NR_146743.1:n.1658C>T | ||
| NR_146744.1:n.1786C>T | ||
| NR_146745.1:n.1445C>T | ||
| NR_146746.1:n.1880C>T | ||
| NR_146747.1:n.1224C>T | ||
| NR_146748.1:n.1684C>T | ||
| NR_146749.1:n.1658C>T | ||
| NR_146750.1:n.1782C>T | ||
| NR_146751.1:n.1662C>T | ||
| NR_146752.1:n.1726C>T | ||
| NR_146753.1:n.1578C>T | ||
| NR_146754.1:n.1522C>T | ||
| NR_146755.1:n.1786C>T | ||
| NR_146756.1:n.1441C>T | ||
| NR_146757.1:n.1712C>T | ||
| NR_146758.1:n.1441C>T | ||
| NR_146759.1:n.1441C>T | ||
| XM_011535949.3:c.1366C>T | XP_011534251.1:p.Arg456Cys | |
| XM_017011073.1:c.841C>T | XP_016866562.1:p.Arg281Cys | |
| XM_017011074.2:c.841C>T | XP_016866563.1:p.Arg281Cys | |
| XM_017011075.2:c.841C>T | XP_016866564.1:p.Arg281Cys | |
| XM_017011076.2:c.841C>T | XP_016866565.1:p.Arg281Cys | |
| XM_017011077.2:c.841C>T | XP_016866566.1:p.Arg281Cys | |
| XM_017011078.2:c.841C>T | XP_016866567.1:p.Arg281Cys | |
| XM_024446494.1:c.841C>T | XP_024302262.1:p.Arg281Cys | |
| NM_020320.5:c.1366C>T MANE Select | NP_064716.2:p.Arg456Cys | |
| NM_001318785.2:c.841C>T | NP_001305714.1:p.Arg281Cys | |
| NM_001350505.2:c.1366C>T | NP_001337434.1:p.Arg456Cys | |
| NM_001350506.2:c.841C>T | NP_001337435.1:p.Arg281Cys | |
| NM_001350507.2:c.841C>T | NP_001337436.1:p.Arg281Cys | |
| NM_001350508.2:c.841C>T | NP_001337437.1:p.Arg281Cys | |
| NM_001350509.2:c.841C>T | NP_001337438.1:p.Arg281Cys | |
| NM_001350510.2:c.841C>T | NP_001337439.1:p.Arg281Cys | |
| NM_001350511.2:c.841C>T | NP_001337440.1:p.Arg281Cys | |
| NR_134857.2:n.1392C>T | ||
| NR_146738.2:n.1664C>T | ||
| NR_146739.2:n.1473C>T | ||
| NR_146740.2:n.1741C>T | ||
| NR_146741.2:n.1403C>T | ||
| NR_146742.2:n.1775C>T | ||
| NR_146743.2:n.1613C>T | ||
| NR_146744.2:n.1741C>T | ||
| NR_146745.2:n.1400C>T | ||
| NR_146746.2:n.1835C>T | ||
| NR_146747.2:n.1179C>T | ||
| NR_146748.2:n.1639C>T | ||
| NR_146749.2:n.1613C>T | ||
| NR_146750.2:n.1737C>T | ||
| NR_146751.2:n.1617C>T | ||
| NR_146752.2:n.1681C>T | ||
| NR_146753.2:n.1533C>T | ||
| NR_146754.2:n.1477C>T | ||
| NR_146755.2:n.1741C>T | ||
| NR_146756.2:n.1396C>T | ||
| NR_146757.2:n.1667C>T | ||
| NR_146758.2:n.1396C>T | ||
| NR_146759.2:n.1396C>T |