Linked Data
dbSNP Id:
rs143500912
gnomAD v4:
4-6301523-C-T
MyVariant Identifiers:
chr4:g.6303250C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301523C>T , CM000666.2:g.6301523C>T | GRCh38 |
| NC_000004.11:g.6303250C>T , CM000666.1:g.6303250C>T | GRCh37 |
| NC_000004.10:g.6354151C>T | NCBI36 |
| NG_011700.1:g.36674C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1764C>T | ENSP00000507852.1:p.Gly588= | |
| ENST00000683395.1:c.1705C>T | ||
| ENST00000684087.1:c.1728C>T | ENSP00000506978.1:p.Gly576= | |
| ENST00000506362.2:c.1479C>T | ENSP00000424103.2:p.Gly493= | |
| ENST00000673642.1:c.1387C>T | ENSP00000501242.1:n.1387C>T | |
| ENST00000673991.1:c.1764C>T | ENSP00000501033.1:p.Gly588= | |
| ENST00000226760.5:c.1728C>T MANE Select | ENSP00000226760.1:p.Gly576= | |
| ENST00000503569.5:c.1728C>T | ENSP00000423337.1:p.Gly576= | |
| ENST00000507765.1:n.1913C>T | ||
| NM_001145853.1:c.1728C>T | NP_001139325.1:p.Gly576= | |
| NM_006005.3:c.1728C>T MANE Select | NP_005996.2:p.Gly576= | |
| XM_017008586.1:c.1737C>T | XP_016864075.1:p.Gly579= |