Linked Data
ClinVar Variation Id:
1386648
dbSNP Id:
rs1026850270
gnomAD v2:
12-124171440-G-C
gnomAD v3:
12-123686893-G-C
gnomAD v4:
12-123686893-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.123686893G>C , CM000674.2:g.123686893G>C | GRCh38 |
| NC_000012.11:g.124171440G>C , CM000674.1:g.124171440G>C | GRCh37 |
| NC_000012.10:g.122737393G>C | NCBI36 |
| NG_030442.1:g.20781G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303372.7:c.622G>C MANE Select | ENSP00000304941.5:p.Gly208Arg | |
| ENST00000679504.1:c.619G>C | ENSP00000505006.1:p.Gly207Arg | |
| ENST00000680500.1:c.622G>C | ENSP00000506438.1:p.Gly208Arg | |
| ENST00000680574.1:c.622G>C | ENSP00000505356.1:p.Gly208Arg | |
| ENST00000303372.6:c.622G>C | ENSP00000304941.5:p.Gly208Arg | |
| ENST00000426174.6:c.619G>C | ENSP00000395171.2:p.Gly207Arg | |
| NM_001143850.2:c.619G>C | NP_001137322.1:p.Gly207Arg | |
| NM_024809.4:c.622G>C | NP_079085.2:p.Gly208Arg | |
| XM_005253623.2:c.622G>C | XP_005253680.1:p.Gly208Arg | |
| XM_006719605.2:c.622G>C | XP_006719668.1:p.Gly208Arg | |
| XM_006719605.3:c.622G>C | XP_006719668.1:p.Gly208Arg | |
| XM_017019974.1:c.619G>C | XP_016875463.1:p.Gly207Arg | |
| XM_017019975.1:c.-164G>C | XP_016875464.1:n.-164G>C | |
| NM_024809.5:c.622G>C MANE Select | NP_079085.2:p.Gly208Arg | |
| NM_001143850.3:c.619G>C | NP_001137322.1:p.Gly207Arg |