Linked Data
ClinVar Variation Id:
194403
dbSNP Id:
rs146111714
ExAC:
7:95775886 C / A
gnomAD v2:
7-95775886-C-A
gnomAD v3:
7-96146574-C-A
gnomAD v4:
7-96146574-C-A
COSMIC:
COSM3883580
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.96146574C>A , CM000669.2:g.96146574C>A | GRCh38 |
| NC_000007.13:g.95775886C>A , CM000669.1:g.95775886C>A | GRCh37 |
| NC_000007.12:g.95613822C>A | NCBI36 |
| NG_012247.1:g.180574G>T | |
| NG_012247.2:g.180574G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000265631.10:c.1434G>T MANE Select | ENSP00000265631.6:p.Gly478= | |
| ENST00000265631.9:c.1434G>T | ENSP00000265631.5:p.Gly478= | |
| ENST00000416240.6:c.1437G>T | ENSP00000400101.2:p.Gly479= | |
| ENST00000490072.5:n.558G>T | ||
| NM_001160210.1:c.1437G>T | NP_001153682.1:p.Gly479= | |
| NM_014251.2:c.1434G>T | NP_055066.1:p.Gly478= | |
| NR_027662.1:n.1509G>T | ||
| XM_006715831.2:c.1467G>T | XP_006715894.1:p.Gly489= | |
| XM_011515728.1:c.582G>T | XP_011514030.1:p.Gly194= | |
| XM_006715831.4:c.1467G>T | XP_006715894.1:p.Gly489= | |
| XM_017011663.1:c.1425G>T | XP_016867152.1:p.Gly475= | |
| XM_017011664.2:c.582G>T | XP_016867153.1:p.Gly194= | |
| XM_017011665.1:c.582G>T | XP_016867154.1:p.Gly194= | |
| XR_001744525.2:n.1680G>T | ||
| XR_002956405.1:n.2238G>T | ||
| NM_014251.3:c.1434G>T MANE Select | NP_055066.1:p.Gly478= | |
| NR_027662.2:n.1460G>T | ||
| NM_001160210.2:c.1437G>T | NP_001153682.1:p.Gly479= |