Linked Data
dbSNP Id:
rs1219119678
gnomAD v2:
8-10470437-A-T
gnomAD v3:
8-10612927-A-T
gnomAD v4:
8-10612927-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612927A>T , CM000670.2:g.10612927A>T | GRCh38 |
| NC_000008.10:g.10470437A>T , CM000670.1:g.10470437A>T | GRCh37 |
| NC_000008.9:g.10507847A>T | NCBI36 |
| NG_028035.1:g.47181T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1171T>A MANE Select | ENSP00000371923.3:p.Cys391Ser | |
| ENST00000382483.3:c.1171T>A | ENSP00000371923.3:p.Cys391Ser | |
| NM_178857.5:c.1171T>A | NP_849188.4:p.Cys391Ser | |
| NM_178857.6:c.1171T>A MANE Select | NP_849188.4:p.Cys391Ser |