Linked Data
ClinVar Variation Id:
2777772
ClinVar RCV Id:
RCV003659214
dbSNP Id:
rs1363040255
gnomAD v2:
2-61145345-A-G
gnomAD v4:
2-60918210-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.60918210A>G , CM000664.2:g.60918210A>G | GRCh38 |
| NC_000002.11:g.61145345A>G , CM000664.1:g.61145345A>G | GRCh37 |
| NC_000002.10:g.60998849A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699191.1:c.555A>G | ENSP00000514191.1:p.Glu185= | |
| ENST00000699192.1:c.555A>G | ENSP00000514192.1:p.Glu185= | |
| ENST00000699193.1:c.*154A>G | ENSP00000514193.1:n.*154A>G | |
| ENST00000699194.1:n.506A>G | ||
| ENST00000699195.1:n.1025A>G | ||
| ENST00000394479.4:c.555A>G MANE Select | ENSP00000377989.4:p.Glu185= | |
| ENST00000295025.12:c.555A>G | ENSP00000295025.7:p.Glu185= | |
| ENST00000394479.3:c.555A>G | ENSP00000377989.3:p.Glu185= | |
| NM_001291746.1:c.555A>G | NP_001278675.1:p.Glu185= | |
| NM_002908.3:c.555A>G | NP_002899.1:p.Glu185= | |
| XM_011533010.1:c.261A>G | XP_011531312.1:p.Glu87= | |
| XM_011533010.3:c.261A>G | XP_011531312.1:p.Glu87= | |
| XM_017004627.2:c.555A>G | XP_016860116.1:p.Glu185= | |
| NM_001291746.2:c.555A>G MANE Select | NP_001278675.1:p.Glu185= | |
| NM_002908.4:c.555A>G | NP_002899.1:p.Glu185= |