Linked Data
ClinVar Variation Id:
161472
ClinVar RCV Id:
RCV000149006
dbSNP Id:
rs139289550
ExAC:
7:126086303 G / A
gnomAD v2:
7-126086303-G-A
gnomAD v3:
7-126446249-G-A
gnomAD v4:
7-126446249-G-A
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.126446249G>A , CM000669.2:g.126446249G>A | GRCh38 |
| NC_000007.13:g.126086303G>A , CM000669.1:g.126086303G>A | GRCh37 |
| NC_000007.12:g.125873539G>A | NCBI36 |
| NG_029532.1:g.811126C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358373.8:c.2554C>T | ENSP00000351142.3:p.Arg852Cys | |
| ENST00000706915.1:c.2554C>T | ENSP00000516623.1:p.Arg852Cys | |
| ENST00000706916.1:c.2554C>T | ENSP00000516624.1:p.Arg852Cys | |
| ENST00000706917.1:c.2554C>T | ENSP00000516625.1:p.Arg852Cys | |
| ENST00000339582.7:c.2554C>T MANE Select | ENSP00000344173.2:p.Arg852Cys | |
| ENST00000339582.6:c.2554C>T | ENSP00000344173.2:p.Arg852Cys | |
| ENST00000341617.7:c.*1119C>T | ENSP00000345747.3:n.*1119C>T | |
| ENST00000358373.7:c.2554C>T | ENSP00000351142.3:p.Arg852Cys | |
| ENST00000444921.3:c.1078C>T | ENSP00000409790.3:p.Arg360Cys | |
| ENST00000472701.5:c.2554C>T | ENSP00000419832.1:p.Arg852Cys | |
| ENST00000489939.5:n.246C>T | ||
| ENST00000495315.1:n.177C>T | ||
| NM_000845.2:c.2554C>T | NP_000836.2:p.Arg852Cys | |
| NM_001127323.1:c.2554C>T | NP_001120795.1:p.Arg852Cys | |
| NR_028041.1:n.2936C>T | ||
| XM_006715938.2:c.2554C>T | XP_006716001.1:p.Arg852Cys | |
| XM_011516091.1:c.2554C>T | XP_011514393.1:p.Arg852Cys | |
| XM_011516092.1:c.2554C>T | XP_011514394.1:p.Arg852Cys | |
| XM_011516094.1:c.2071C>T | XP_011514396.1:p.Arg691Cys | |
| XM_011516095.1:c.1972C>T | XP_011514397.1:p.Arg658Cys | |
| XM_011516096.1:c.1939C>T | XP_011514398.1:p.Arg647Cys | |
| XM_011516097.1:c.1939C>T | XP_011514399.1:p.Arg647Cys | |
| XM_011516098.1:c.1939C>T | XP_011514400.1:p.Arg647Cys | |
| XM_011516099.1:c.1939C>T | XP_011514401.1:p.Arg647Cys | |
| XM_011516100.1:c.1939C>T | XP_011514402.1:p.Arg647Cys | |
| XM_011516101.1:c.1939C>T | XP_011514403.1:p.Arg647Cys | |
| XM_011516102.1:c.1939C>T | XP_011514404.1:p.Arg647Cys | |
| XM_011516103.1:c.1717C>T | XP_011514405.1:p.Arg573Cys | |
| XM_011516104.1:c.1717C>T | XP_011514406.1:p.Arg573Cys | |
| XM_011516105.1:c.1717C>T | XP_011514407.1:p.Arg573Cys | |
| XM_011516106.1:c.1717C>T | XP_011514408.1:p.Arg573Cys | |
| XM_011516107.1:c.1717C>T | XP_011514409.1:p.Arg573Cys | |
| XM_011516108.1:c.1486C>T | XP_011514410.1:p.Arg496Cys | |
| XM_011516109.1:c.1321C>T | XP_011514411.1:p.Arg441Cys | |
| XM_006715938.4:c.2554C>T | XP_006716001.1:p.Arg852Cys | |
| XM_011516091.2:c.2554C>T | XP_011514393.1:p.Arg852Cys | |
| XM_011516092.3:c.2554C>T | XP_011514394.1:p.Arg852Cys | |
| XM_011516095.2:c.1972C>T | XP_011514397.1:p.Arg658Cys | |
| XM_011516101.2:c.1939C>T | XP_011514403.1:p.Arg647Cys | |
| XM_011516102.2:c.1939C>T | XP_011514404.1:p.Arg647Cys | |
| XM_011516103.2:c.1717C>T | XP_011514405.1:p.Arg573Cys | |
| XM_011516108.2:c.1486C>T | XP_011514410.1:p.Arg496Cys | |
| XM_017012074.1:c.2554C>T | XP_016867563.1:p.Arg852Cys | |
| XM_017012075.1:c.1939C>T | XP_016867564.1:p.Arg647Cys | |
| XM_017012076.1:c.1939C>T | XP_016867565.1:p.Arg647Cys | |
| XM_017012077.1:c.1939C>T | XP_016867566.1:p.Arg647Cys | |
| XM_017012078.1:c.1939C>T | XP_016867567.1:p.Arg647Cys | |
| XM_017012079.1:c.1939C>T | XP_016867568.1:p.Arg647Cys | |
| XM_017012080.1:c.1717C>T | XP_016867569.1:p.Arg573Cys | |
| XM_024446736.1:c.1717C>T | XP_024302504.1:p.Arg573Cys | |
| NM_000845.3:c.2554C>T MANE Select | NP_000836.2:p.Arg852Cys | |
| NM_001371083.1:c.2554C>T | NP_001358012.1:p.Arg852Cys | |
| NM_001371084.1:c.2554C>T | NP_001358013.1:p.Arg852Cys | |
| NM_001371085.1:c.2554C>T | NP_001358014.1:p.Arg852Cys | |
| NM_001371086.1:c.2554C>T | NP_001358015.1:p.Arg852Cys | |
| NM_001371087.1:c.1939C>T | NP_001358016.1:p.Arg647Cys | |
| NR_163849.1:n.3010C>T | ||
| NR_163850.1:n.2193C>T |