Linked Data
ClinVar Variation Id:
12066
ClinVar RCV Id:
RCV000012846
dbSNP Id:
rs121964946
gnomAD v4:
13-113147496-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.113147496G>C , CM000675.2:g.113147496G>C | GRCh38 |
| NC_000013.10:g.113801810G>C , CM000675.1:g.113801810G>C | GRCh37 |
| NC_000013.9:g.112849811G>C | NCBI36 |
| NG_009258.1:g.29698G>C , LRG_548:g.29698G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375559.8:c.865G>C MANE Select | ENSP00000364709.3:p.Gly289Arg | |
| ENST00000375551.7:c.855+10G>C | ENSP00000364701.3:n.855+10G>C | |
| ENST00000375559.7:c.865G>C | ENSP00000364709.3:p.Gly289Arg | |
| ENST00000409306.5:c.861+4G>C | ENSP00000387092.1:n.861+4G>C | |
| NM_000504.3:c.865G>C , LRG_548t1:c.865G>C | NP_000495.1:p.Gly289Arg | |
| NM_001312674.1:c.733G>C | NP_001299603.1:p.Gly245Arg | |
| NM_001312675.1:c.855+10G>C | NP_001299604.1:n.855+10G>C | |
| NM_000504.4:c.865G>C MANE Select | NP_000495.1:p.Gly289Arg | |
| NM_001312674.2:c.733G>C | NP_001299603.1:p.Gly245Arg | |
| NM_001312675.2:c.855+10G>C | NP_001299604.1:n.855+10G>C |