Linked Data
ClinVar Variation Id:
325389
dbSNP Id:
rs75808808
ExAC:
17:73951976 C / T
gnomAD v2:
17-73951976-C-T
gnomAD v3:
17-75955895-C-T
gnomAD v4:
17-75955895-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.75955895C>T , CM000679.2:g.75955895C>T | GRCh38 |
| NC_000017.10:g.73951976C>T , CM000679.1:g.73951976C>T | GRCh37 |
| NC_000017.9:g.71463571C>T | NCBI36 |
| NG_008190.1:g.28469G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301608.9:c.591G>A | ENSP00000301608.4:p.Gly197= | |
| ENST00000293217.10:c.591G>A MANE Select | ENSP00000293217.4:p.Gly197= | |
| ENST00000293217.9:c.591G>A | ENSP00000293217.4:p.Gly197= | |
| ENST00000301608.8:c.591G>A | ENSP00000301608.4:p.Gly197= | |
| ENST00000572047.5:c.765G>A | ENSP00000459936.1:n.765G>A | |
| ENST00000573078.5:c.*80G>A | ENSP00000458325.1:n.*80G>A | |
| ENST00000591857.5:n.647G>A | ||
| NM_001185039.1:c.477G>A | NP_001171968.1:p.Gly159= | |
| NM_004035.6:c.591G>A | NP_004026.2:p.Gly197= | |
| NM_007292.5:c.591G>A | NP_009223.2:p.Gly197= | |
| XM_011524868.1:c.387G>A | XP_011523170.1:p.Gly129= | |
| XM_011524869.1:c.183G>A | XP_011523171.1:p.Gly61= | |
| XM_011524868.3:c.387G>A | XP_011523170.1:p.Gly129= | |
| XM_011524869.3:c.183G>A | XP_011523171.1:p.Gly61= | |
| NM_004035.7:c.591G>A MANE Select | NP_004026.2:p.Gly197= | |
| NM_001185039.2:c.477G>A | NP_001171968.1:p.Gly159= | |
| NM_007292.6:c.591G>A | NP_009223.2:p.Gly197= |