Linked Data
ClinVar Variation Id:
193290
dbSNP Id:
rs79644263
ExAC:
18:77440133 G / C
gnomAD v2:
18-77440133-G-C
gnomAD v3:
18-79680133-G-C
gnomAD v4:
18-79680133-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.79680133G>C , CM000680.2:g.79680133G>C | GRCh38 |
| NC_000018.9:g.77440133G>C , CM000680.1:g.77440133G>C | GRCh37 |
| NC_000018.8:g.75541121G>C | NCBI36 |
| NG_007988.1:g.5333G>C , LRG_236:g.5333G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000613122.5:c.186G>C MANE Select | ENSP00000484525.2:p.Gly62= | |
| ENST00000075430.11:c.186G>C | ENSP00000075430.7:p.Gly62= | |
| ENST00000613122.4:c.186G>C | ENSP00000484525.1:p.Gly62= | |
| NM_004715.4:c.186G>C , LRG_236t1:c.186G>C | NP_004706.3:p.Gly62= | |
| NM_048368.3:c.186G>C | NP_430255.2:p.Gly62= | |
| XM_005266782.2:c.186G>C | XP_005266839.1:p.Gly62= | |
| XM_011526261.1:c.186G>C | XP_011524563.1:p.Gly62= | |
| NM_001318511.1:c.186G>C | NP_001305440.1:p.Gly62= | |
| NM_001318511.2:c.186G>C | NP_001305440.1:p.Gly62= | |
| NM_004715.5:c.186G>C MANE Select | NP_004706.3:p.Gly62= | |
| NM_048368.4:c.186G>C | NP_430255.2:p.Gly62= |