Linked Data
ClinVar Variation Id:
126708
ClinVar RCV Id:
RCV000114588
RCV000130354
RCV000212821
RCV000286032
RCV000858970
RCV001030645
RCV001356371
RCV004529923
dbSNP Id:
rs183489969
ExAC:
16:23632742 C / G
gnomAD v2:
16-23632742-C-G
gnomAD v3:
16-23621421-C-G
gnomAD v4:
16-23621421-C-G
COSMIC:
COSM3279826
PubMed:
PMID:21285249
PMID:22241545
PMID:23977390
PMID:25356972
PMID:25575445
PMID:26283626
PMID:26411315
PMID:26489409
PMID:27616075
PMID:27783279
ERepo:
CA294183/MONDO:0016419/020
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.23621421C>G , CM000678.2:g.23621421C>G | GRCh38 |
| NC_000016.9:g.23632742C>G , CM000678.1:g.23632742C>G | GRCh37 |
| NC_000016.8:g.23540243C>G | NCBI36 |
| NG_007406.1:g.24937G>C , LRG_308:g.24937G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000561514.3:c.3060G>C | ENSP00000460666.3:p.Glu1020Asp | |
| ENST00000565038.2:c.*535G>C | ENSP00000459882.2:n.*535G>C | |
| ENST00000566069.6:c.3054G>C | ENSP00000459237.2:p.Glu1018Asp | |
| ENST00000697377.2:c.2898G>C | ENSP00000513286.2:p.Glu966Asp | |
| ENST00000697379.2:c.3060G>C | ENSP00000513287.2:p.Glu1020Asp | |
| ENST00000561514.2:c.2169G>C | ENSP00000460666.2:p.Glu723Asp | |
| ENST00000697374.1:c.2169G>C | ENSP00000513284.1:p.Glu723Asp | |
| ENST00000697375.1:n.4401G>C | ||
| ENST00000697376.1:c.2169G>C | ENSP00000513285.1:p.Glu723Asp | |
| ENST00000697377.1:c.2007G>C | ENSP00000513286.1:p.Glu669Asp | |
| ENST00000697378.1:n.3574G>C | ||
| ENST00000697379.1:c.2169G>C | ENSP00000513287.1:p.Glu723Asp | |
| ENST00000697380.1:n.2346G>C | ||
| ENST00000697381.1:n.1749G>C | ||
| ENST00000697382.1:c.2169G>C | ENSP00000513288.1:p.Glu723Asp | |
| ENST00000697383.1:c.588G>C | ENSP00000513289.1:p.Glu196Asp | |
| ENST00000261584.9:c.3054G>C MANE Select | ENSP00000261584.4:p.Glu1018Asp | |
| ENST00000261584.8:c.3054G>C | ENSP00000261584.4:p.Glu1018Asp | |
| ENST00000568219.5:c.2169G>C | ENSP00000454703.2:p.Glu723Asp | |
| NM_024675.3:c.3054G>C , LRG_308t1:c.3054G>C | NP_078951.2:p.Glu1018Asp | |
| XM_011545946.1:c.3060G>C | XP_011544248.1:p.Glu1020Asp | |
| XM_011545947.1:c.3060G>C | XP_011544249.1:p.Glu1020Asp | |
| XM_011545948.1:c.2169G>C | XP_011544250.1:p.Glu723Asp | |
| XR_950851.1:n.3850G>C | ||
| XM_011545946.2:c.3060G>C | XP_011544248.1:p.Glu1020Asp | |
| XM_011545947.2:c.3060G>C | XP_011544249.1:p.Glu1020Asp | |
| XM_011545948.2:c.2169G>C | XP_011544250.1:p.Glu723Asp | |
| XM_017023671.1:c.3060G>C | XP_016879160.1:p.Glu1020Asp | |
| XM_017023672.2:c.3054G>C | XP_016879161.1:p.Glu1018Asp | |
| XM_017023673.2:c.3054G>C | XP_016879162.1:p.Glu1018Asp | |
| NM_024675.4:c.3054G>C MANE Select | NP_078951.2:p.Glu1018Asp |