Linked Data
ClinVar Variation Id:
163606
dbSNP Id:
rs727503080
gnomAD v2:
5-90072355-G-C
gnomAD v3:
5-90776538-G-C
gnomAD v4:
5-90776538-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.90776538G>C , CM000667.2:g.90776538G>C | GRCh38 |
| NC_000005.9:g.90072355G>C , CM000667.1:g.90072355G>C | GRCh37 |
| NC_000005.8:g.90108111G>C | NCBI36 |
| NG_007083.1:g.222739G>C | |
| NG_007083.2:g.252195G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000405460.9:c.12489G>C MANE Select | ENSP00000384582.2:p.Gly4163= | |
| ENST00000425867.3:c.1443G>C | ENSP00000392618.3:p.Gly481= | |
| ENST00000639431.1:c.265+100329G>C | ENSP00000491057.1:n.265+100329G>C | |
| ENST00000640464.1:n.2908G>C | ||
| ENST00000640729.1:n.1066G>C | ||
| ENST00000405460.6:c.12489G>C | ENSP00000384582.2:p.Gly4163= | |
| NM_032119.3:c.12489G>C | NP_115495.3:p.Gly4163= | |
| NR_003149.1:n.12502G>C | ||
| XM_011543675.1:c.12486G>C | XP_011541977.1:p.Gly4162= | |
| XM_011543676.1:c.12408G>C | XP_011541978.1:p.Gly4136= | |
| XM_011543677.1:c.9792G>C | XP_011541979.1:p.Gly3264= | |
| XM_011543678.1:c.12489G>C | XP_011541980.1:p.Gly4163= | |
| NM_032119.4:c.12489G>C MANE Select | NP_115495.3:p.Gly4163= | |
| XM_017009963.2:c.12510G>C | XP_016865452.1:p.Gly4170= | |
| XM_017009964.2:c.12507G>C | XP_016865453.1:p.Gly4169= | |
| XM_017009965.1:c.12507G>C | XP_016865454.1:p.Gly4169= | |
| XM_017009966.2:c.12429G>C | XP_016865455.1:p.Gly4143= | |
| XM_017009967.1:c.12414G>C | XP_016865456.1:p.Gly4138= | |
| XM_017009968.2:c.12510G>C | XP_016865457.1:p.Gly4170= | |
| XM_017009969.2:c.12510G>C | XP_016865458.1:p.Gly4170= | |
| XM_017009970.2:c.12510G>C | XP_016865459.1:p.Gly4170= | |
| XM_017009971.2:c.12510G>C | XP_016865460.1:p.Gly4170= | |
| XM_017009972.1:c.5628G>C | XP_016865461.1:p.Gly1876= | |
| XM_017009973.1:c.5607G>C | XP_016865462.1:p.Gly1869= | |
| NR_003149.2:n.12505G>C |