Linked Data
ClinVar Variation Id:
516851
dbSNP Id:
rs141020933
ExAC:
4:6303730 C / T
gnomAD v2:
4-6303730-C-T
gnomAD v3:
4-6302003-C-T
gnomAD v4:
4-6302003-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6302003C>T , CM000666.2:g.6302003C>T | GRCh38 |
| NC_000004.11:g.6303730C>T , CM000666.1:g.6303730C>T | GRCh37 |
| NC_000004.10:g.6354631C>T | NCBI36 |
| NG_011700.1:g.37154C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.2244C>T | ENSP00000507852.1:p.Gly748= | |
| ENST00000683395.1:c.2185C>T | ||
| ENST00000684087.1:c.2208C>T | ENSP00000506978.1:p.Gly736= | |
| ENST00000506362.2:c.1959C>T | ENSP00000424103.2:p.Gly653= | |
| ENST00000673642.1:c.1867C>T | ENSP00000501242.1:n.1867C>T | |
| ENST00000673991.1:c.2244C>T | ENSP00000501033.1:p.Gly748= | |
| ENST00000226760.5:c.2208C>T MANE Select | ENSP00000226760.1:p.Gly736= | |
| ENST00000503569.5:c.2208C>T | ENSP00000423337.1:p.Gly736= | |
| ENST00000507765.1:n.2393C>T | ||
| NM_001145853.1:c.2208C>T | NP_001139325.1:p.Gly736= | |
| NM_006005.3:c.2208C>T MANE Select | NP_005996.2:p.Gly736= | |
| XM_017008586.1:c.2217C>T | XP_016864075.1:p.Gly739= |