Linked Data
ClinVar Variation Id:
2806596
ClinVar RCV Id:
RCV003679861
dbSNP Id:
rs754745662
ExAC:
4:44680669 G / T
gnomAD v2:
4-44680669-G-T
gnomAD v4:
4-44678652-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.44678652G>T , CM000666.2:g.44678652G>T | GRCh38 |
| NC_000004.11:g.44680669G>T , CM000666.1:g.44680669G>T | GRCh37 |
| NC_000004.10:g.44375426G>T | NCBI36 |
| NG_051569.1:g.5258G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281543.6:c.30G>T MANE Select | ENSP00000281543.5:p.Gly10= | |
| ENST00000281543.5:c.30G>T | ENSP00000281543.5:p.Gly10= | |
| ENST00000506793.5:n.159+67G>T | ||
| ENST00000513775.1:c.30G>T | ENSP00000422681.1:p.Gly10= | |
| NM_021927.2:c.30G>T | NP_068746.2:p.Gly10= | |
| XM_005248122.2:c.-831G>T | XP_005248179.1:n.-831G>T | |
| XM_011513732.1:c.30G>T | XP_011512034.1:p.Gly10= | |
| XM_011513733.1:c.15+67G>T | XP_011512035.1:n.15+67G>T | |
| XM_011513734.1:c.30G>T | XP_011512036.1:p.Gly10= | |
| NM_001345867.1:c.-939G>T | NP_001332796.1:n.-939G>T | |
| NM_001345868.1:c.30G>T | NP_001332797.1:p.Gly10= | |
| NM_001345869.1:c.-831G>T | NP_001332798.1:n.-831G>T | |
| XM_024454178.1:c.15+67G>T | XP_024309946.1:n.15+67G>T | |
| NM_021927.3:c.30G>T MANE Select | NP_068746.2:p.Gly10= | |
| NM_001345867.2:c.-939G>T | NP_001332796.1:n.-939G>T | |
| NM_001345868.2:c.30G>T | NP_001332797.1:p.Gly10= | |
| NM_001345869.2:c.-831G>T | NP_001332798.1:n.-831G>T |