Linked Data
ClinVar Variation Id:
98514
ClinVar RCV Id:
RCV000084805
dbSNP Id:
rs367543212
ExAC:
19:54396281 T / C
gnomAD v2:
19-54396281-T-C
gnomAD v3:
19-53893027-T-C
gnomAD v4:
19-53893027-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.53893027T>C , CM000681.2:g.53893027T>C | GRCh38 |
| NC_000019.9:g.54396281T>C , CM000681.1:g.54396281T>C | GRCh37 |
| NC_000019.8:g.59088093T>C | NCBI36 |
| NG_009114.1:g.15815T>C , LRG_669:g.15815T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682028.1:c.861T>C | ENSP00000507230.1:p.Asn287= | |
| ENST00000682268.1:n.1159T>C | ||
| ENST00000682902.1:n.1163T>C | ||
| ENST00000683513.1:c.861T>C | ENSP00000506809.1:p.Asn287= | |
| ENST00000263431.4:c.861T>C MANE Select | ENSP00000263431.3:p.Asn287= | |
| ENST00000263431.3:c.861T>C | ENSP00000263431.3:p.Asn287= | |
| NM_001316329.1:c.861T>C | NP_001303258.1:p.Asn287= | |
| NM_002739.3:c.861T>C , LRG_669t1:c.861T>C | NP_002730.1:p.Asn287= | |
| NM_002739.4:c.861T>C | NP_002730.1:p.Asn287= | |
| NM_002739.5:c.861T>C MANE Select | NP_002730.1:p.Asn287= | |
| NM_001316329.2:c.861T>C | NP_001303258.1:p.Asn287= |