Linked Data
ClinVar Variation Id:
287325
ClinVar RCV Id:
RCV000316036
RCV000725991
RCV001114823
RCV001848061
RCV002521970
RCV001087471
RCV004549595
dbSNP Id:
rs143326964
ExAC:
12:57963802 G / C
gnomAD v2:
12-57963802-G-C
gnomAD v3:
12-57570019-G-C
gnomAD v4:
12-57570019-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57570019G>C , CM000674.2:g.57570019G>C | GRCh38 |
| NC_000012.11:g.57963802G>C , CM000674.1:g.57963802G>C | GRCh37 |
| NC_000012.10:g.56250069G>C | NCBI36 |
| NG_008155.1:g.24956G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000455537.7:c.1150G>C MANE Select | ENSP00000408979.2:p.Gly384Arg | |
| ENST00000674619.1:c.1150G>C | ENSP00000502270.1:p.Gly384Arg | |
| ENST00000675882.1:n.137G>C | ||
| ENST00000676081.1:n.296G>C | ||
| ENST00000676457.1:c.1045G>C | ENSP00000501588.1:p.Gly349Arg | |
| ENST00000286452.5:c.883G>C | ENSP00000286452.5:p.Gly295Arg | |
| ENST00000455537.6:c.1150G>C | ENSP00000408979.2:p.Gly384Arg | |
| NM_004984.2:c.1150G>C | NP_004975.2:p.Gly384Arg | |
| NM_001354705.1:c.883G>C | NP_001341634.1:p.Gly295Arg | |
| NM_004984.3:c.1150G>C | NP_004975.2:p.Gly384Arg | |
| XR_002957324.1:n.1383G>C | ||
| NM_004984.4:c.1150G>C MANE Select | NP_004975.2:p.Gly384Arg | |
| NM_001354705.2:c.883G>C | NP_001341634.1:p.Gly295Arg |