Linked Data
ClinVar Variation Id:
16339
ClinVar RCV Id:
RCV000017745
RCV000017742
RCV000017743
RCV000017744
RCV000297175
RCV000417690
RCV000431989
RCV000420501
RCV000438171
RCV000435437
RCV000424421
RCV000763119
RCV002276554
RCV003155033
RCV003758684
RCV004532377
RCV003989294
dbSNP Id:
rs121913483
ExAC:
4:1803568 C / G
gnomAD v2:
4-1803568-C-G
PubMed:
PMID:8589699
PMID:10471491
PMID:15772091
PMID:19381019
PMID:20301540
PMID:25157968
PMID:26619011
CIViC:
CA126380
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1801841C>G , CM000666.2:g.1801841C>G | GRCh38 |
| NC_000004.11:g.1803568C>G , CM000666.1:g.1803568C>G | GRCh37 |
| NC_000004.10:g.1773366C>G | NCBI36 |
| NG_012632.1:g.13530C>G , LRG_1021:g.13530C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000340107.9:c.746C>G | ENSP00000339824.4:p.Ser249Cys | |
| ENST00000260795.8:c.746C>G | ENSP00000260795.3:p.Ser249Cys | |
| ENST00000352904.6:c.746C>G | ENSP00000231803.1:p.Ser249Cys | |
| ENST00000412135.7:c.734C>G | ENSP00000412903.3:p.Ser245Cys | |
| ENST00000440486.8:c.746C>G MANE Select | ENSP00000414914.2:p.Ser249Cys | |
| ENST00000481110.7:c.746C>G | ENSP00000420533.2:p.Ser249Cys | |
| ENST00000260795.6:c.746C>G | ENSP00000260795.2:p.Ser249Cys | |
| ENST00000340107.8:c.746C>G | ENSP00000339824.4:p.Ser249Cys | |
| ENST00000352904.5:c.746C>G | ENSP00000231803.1:p.Ser249Cys | |
| ENST00000412135.6:c.746C>G | ENSP00000412903.2:p.Ser249Cys | |
| ENST00000440486.6:c.746C>G | ENSP00000414914.2:p.Ser249Cys | |
| ENST00000474521.1:n.122C>G | ||
| ENST00000481110.6:c.746C>G | ENSP00000420533.2:p.Ser249Cys | |
| ENST00000507588.1:c.206C>G | ENSP00000427289.1:p.Ser69Cys | |
| ENST00000613647.4:c.746C>G | ENSP00000479472.1:p.Ser249Cys | |
| NM_000142.4:c.746C>G , LRG_1021t1:c.746C>G | NP_000133.1:p.Ser249Cys | |
| NM_001163213.1:c.746C>G , LRG_1021t2:c.746C>G | NP_001156685.1:p.Ser249Cys | |
| NM_022965.3:c.746C>G | NP_075254.1:p.Ser249Cys | |
| XM_006713868.1:c.746C>G | XP_006713931.1:p.Ser249Cys | |
| XM_006713869.1:c.746C>G | XP_006713932.1:p.Ser249Cys | |
| XM_006713870.1:c.746C>G | XP_006713933.1:p.Ser249Cys | |
| XM_006713871.1:c.746C>G | XP_006713934.1:p.Ser249Cys | |
| XM_006713872.1:c.746C>G | XP_006713935.1:p.Ser249Cys | |
| XM_006713873.1:c.746C>G | XP_006713936.1:p.Ser249Cys | |
| XM_011513420.1:c.746C>G | XP_011511722.1:p.Ser249Cys | |
| XM_011513422.1:c.746C>G | XP_011511724.1:p.Ser249Cys | |
| NM_001354809.1:c.746C>G | NP_001341738.1:p.Ser249Cys | |
| NM_001354810.1:c.746C>G | NP_001341739.1:p.Ser249Cys | |
| NR_148971.1:n.1002C>G | ||
| NM_001354809.2:c.746C>G | NP_001341738.1:p.Ser249Cys | |
| NM_001354810.2:c.746C>G | NP_001341739.1:p.Ser249Cys | |
| NR_148971.2:n.1021C>G | ||
| NM_000142.5:c.746C>G MANE Select | NP_000133.1:p.Ser249Cys | |
| NM_001163213.2:c.746C>G | NP_001156685.1:p.Ser249Cys | |
| NM_022965.4:c.746C>G | NP_075254.1:p.Ser249Cys |