Linked Data
ClinVar Variation Id:
2138702
ClinVar RCV Id:
RCV003066369
dbSNP Id:
rs104886186
PubMed:
PMID:8648925
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108620303G>A , CM000685.2:g.108620303G>A | GRCh38 |
| NC_000023.10:g.107863533G>A , CM000685.1:g.107863533G>A | GRCh37 |
| NC_000023.9:g.107750189G>A | NCBI36 |
| NG_011977.1:g.185380G>A | |
| NG_011977.2:g.185380G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000328300.11:c.2554G>A MANE Select | ENSP00000331902.7:p.Gly852Arg | |
| ENST00000361603.7:c.2554G>A | ENSP00000354505.2:p.Gly852Arg | |
| ENST00000328300.10:c.2554G>A | ENSP00000331902.6:p.Gly852Arg | |
| ENST00000361603.6:c.2554G>A | ENSP00000354505.2:p.Gly852Arg | |
| ENST00000483338.1:n.2010G>A | ||
| NM_000495.4:c.2554G>A | NP_000486.1:p.Gly852Arg | |
| NM_033380.2:c.2554G>A | NP_203699.1:p.Gly852Arg | |
| XM_005262070.2:c.2554G>A | XP_005262127.1:p.Gly852Arg | |
| XM_005262072.3:c.2554G>A | XP_005262129.1:p.Gly852Arg | |
| XM_006724616.2:c.2554G>A | XP_006724679.1:p.Gly852Arg | |
| XM_011530849.1:c.2230G>A | XP_011529151.1:p.Gly744Arg | |
| XM_011530850.1:c.2554G>A | XP_011529152.1:p.Gly852Arg | |
| XM_011530851.1:c.127G>A | XP_011529153.1:p.Gly43Arg | |
| XM_011530849.2:c.2569G>A | XP_011529151.2:p.Gly857Arg | |
| XM_017029259.2:c.2569G>A | XP_016884748.1:p.Gly857Arg | |
| XM_017029260.1:c.2569G>A | XP_016884749.1:p.Gly857Arg | |
| XM_017029261.1:c.2569G>A | XP_016884750.1:p.Gly857Arg | |
| XM_017029262.2:c.2569G>A | XP_016884751.1:p.Gly857Arg | |
| XM_017029263.2:c.889G>A | XP_016884752.1:p.Gly297Arg | |
| NM_000495.5:c.2554G>A | NP_000486.1:p.Gly852Arg | |
| NM_033380.3:c.2554G>A MANE Select | NP_203699.1:p.Gly852Arg |