Linked Data
dbSNP Id:
rs757229802
ExAC:
4:68619622 C / T
gnomAD v2:
4-68619622-C-T
gnomAD v3:
4-67753904-C-T
gnomAD v4:
4-67753904-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67753904C>T , CM000666.2:g.67753904C>T | GRCh38 |
| NC_000004.11:g.68619622C>T , CM000666.1:g.68619622C>T | GRCh37 |
| NC_000004.10:g.68302217C>T | NCBI36 |
| NG_009293.1:g.7183G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.432G>A MANE Select | ENSP00000226413.5:p.Thr144= | |
| ENST00000226413.4:c.432G>A | ENSP00000226413.4:p.Thr144= | |
| ENST00000420975.2:c.432G>A | ENSP00000397561.2:p.Thr144= | |
| NM_000406.2:c.432G>A | NP_000397.1:p.Thr144= | |
| NM_001012763.1:c.432G>A | NP_001012781.1:p.Thr144= | |
| NM_000406.3:c.432G>A MANE Select | NP_000397.1:p.Thr144= | |
| NM_001012763.2:c.432G>A | NP_001012781.1:p.Thr144= |