Linked Data
dbSNP Id:
rs1213801200
gnomAD v2:
4-68619564-A-C
gnomAD v3:
4-67753846-A-C
gnomAD v4:
4-67753846-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.67753846A>C , CM000666.2:g.67753846A>C | GRCh38 |
| NC_000004.11:g.68619564A>C , CM000666.1:g.68619564A>C | GRCh37 |
| NC_000004.10:g.68302159A>C | NCBI36 |
| NG_009293.1:g.7241T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000226413.5:c.490T>G MANE Select | ENSP00000226413.5:p.Trp164Gly | |
| ENST00000226413.4:c.490T>G | ENSP00000226413.4:p.Trp164Gly | |
| ENST00000420975.2:c.490T>G | ENSP00000397561.2:p.Trp164Gly | |
| NM_000406.2:c.490T>G | NP_000397.1:p.Trp164Gly | |
| NM_001012763.1:c.490T>G | NP_001012781.1:p.Trp164Gly | |
| NM_000406.3:c.490T>G MANE Select | NP_000397.1:p.Trp164Gly | |
| NM_001012763.2:c.490T>G | NP_001012781.1:p.Trp164Gly |