Linked Data
ClinVar Variation Id:
2041
dbSNP Id:
rs104893679
gnomAD v2:
3-97510641-G-C
gnomAD v3:
3-97791797-G-C
gnomAD v4:
3-97791797-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.97791797G>C , CM000665.2:g.97791797G>C | GRCh38 |
| NC_000003.11:g.97510641G>C , CM000665.1:g.97510641G>C | GRCh37 |
| NC_000003.10:g.98993331G>C | NCBI36 |
| NG_008119.1:g.32047G>C | |
| NG_008119.2:g.32047G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462412.3:c.506G>C | ENSP00000418740.2:p.Gly169Ala | |
| ENST00000631834.2:c.506G>C | ENSP00000488530.2:p.Gly169Ala | |
| ENST00000463745.6:c.506G>C MANE Select | ENSP00000419619.1:p.Gly169Ala | |
| ENST00000335979.6:c.506G>C | ENSP00000337722.2:p.Gly169Ala | |
| ENST00000394206.5:c.506G>C | ENSP00000377756.1:p.Gly169Ala | |
| ENST00000463745.5:c.506G>C | ENSP00000419619.1:p.Gly169Ala | |
| ENST00000476753.1:c.163+3678G>C | ||
| ENST00000493990.5:c.506G>C | ENSP00000418057.1:p.Gly169Ala | |
| ENST00000631834.1:c.368G>C | ENSP00000488530.1:p.Gly123Ala | |
| NM_001278293.1:c.506G>C | NP_001265222.1:p.Gly169Ala | |
| NM_032146.4:c.506G>C | NP_115522.1:p.Gly169Ala | |
| NM_177976.2:c.506G>C | NP_816931.1:p.Gly169Ala | |
| NR_103511.1:n.1089G>C | ||
| XM_006713779.2:c.506G>C | XP_006713842.1:p.Gly169Ala | |
| XM_006713783.2:c.479+3678G>C | XP_006713846.1:n.479+3678G>C | |
| XR_924184.1:n.978G>C | ||
| XR_924185.1:n.1084G>C | ||
| XR_924186.1:n.1131G>C | ||
| XR_924187.1:n.978G>C | ||
| XR_924188.1:n.1032G>C | ||
| XR_924189.1:n.978G>C | ||
| NM_001278293.2:c.506G>C | NP_001265222.1:p.Gly169Ala | |
| NM_001323513.1:c.506G>C | NP_001310442.1:p.Gly169Ala | |
| NM_001323514.1:c.479+3678G>C | NP_001310443.1:n.479+3678G>C | |
| NM_032146.5:c.506G>C | NP_115522.1:p.Gly169Ala | |
| NM_177976.3:c.506G>C | NP_816931.1:p.Gly169Ala | |
| NR_136595.1:n.1646G>C | ||
| NR_136597.1:n.1547G>C | ||
| NR_136598.1:n.994G>C | ||
| NR_136600.1:n.990G>C | ||
| NR_136601.1:n.990G>C | ||
| NR_136602.1:n.963+3678G>C | ||
| XM_017007311.2:c.506G>C | XP_016862800.1:p.Gly169Ala | |
| XM_017007312.2:c.479+3678G>C | XP_016862801.1:n.479+3678G>C | |
| XR_001740319.2:n.2930G>C | ||
| XR_001740321.2:n.2930G>C | ||
| XR_002959599.1:n.3546G>C | ||
| XR_924184.3:n.2930G>C | ||
| XR_924185.3:n.3029G>C | ||
| XR_924186.3:n.3088G>C | ||
| XR_924187.3:n.2930G>C | ||
| XR_924188.3:n.2989G>C | ||
| XR_924189.3:n.2930G>C | ||
| NM_001278293.3:c.506G>C MANE Select | NP_001265222.1:p.Gly169Ala | |
| NM_001323513.2:c.506G>C | NP_001310442.1:p.Gly169Ala | |
| NM_001323514.2:c.479+3678G>C | NP_001310443.1:n.479+3678G>C | |
| NR_103511.2:n.852G>C | ||
| NR_136595.2:n.1409G>C | ||
| NR_136597.2:n.1310G>C | ||
| NR_136598.2:n.757G>C | ||
| NR_136600.2:n.753G>C | ||
| NR_136601.2:n.753G>C | ||
| NR_136602.2:n.726+3678G>C | ||
| NR_103511.3:n.852G>C | ||
| NR_136600.3:n.753G>C | ||
| NR_136601.3:n.753G>C | ||
| NR_136602.3:n.726+3678G>C |