Linked Data
dbSNP Id:
rs762653213
ExAC:
8:19811692 T / G
gnomAD v2:
8-19811692-T-G
gnomAD v4:
8-19954181-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19954181T>G , CM000670.2:g.19954181T>G | GRCh38 |
| NC_000008.10:g.19811692T>G , CM000670.1:g.19811692T>G | GRCh37 |
| NC_000008.9:g.19855972T>G | NCBI36 |
| NG_008855.1:g.20111T>G | |
| NG_008855.2:g.57465T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650287.1:c.603T>G MANE Select | ENSP00000497642.1:p.Asp201Glu | |
| ENST00000311322.8:c.603T>G | ENSP00000309757.6:p.Asp201Glu | |
| NM_000237.2:c.603T>G | NP_000228.1:p.Asp201Glu | |
| NM_000237.3:c.603T>G MANE Select | NP_000228.1:p.Asp201Glu |