Linked Data
dbSNP Id:
rs372339970
ExAC:
8:10470448 C / G
gnomAD v2:
8-10470448-C-G
gnomAD v3:
8-10612938-C-G
gnomAD v4:
8-10612938-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612938C>G , CM000670.2:g.10612938C>G | GRCh38 |
| NC_000008.10:g.10470448C>G , CM000670.1:g.10470448C>G | GRCh37 |
| NC_000008.9:g.10507858C>G | NCBI36 |
| NG_028035.1:g.47170G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1160G>C MANE Select | ENSP00000371923.3:p.Cys387Ser | |
| ENST00000382483.3:c.1160G>C | ENSP00000371923.3:p.Cys387Ser | |
| NM_178857.5:c.1160G>C | NP_849188.4:p.Cys387Ser | |
| NM_178857.6:c.1160G>C MANE Select | NP_849188.4:p.Cys387Ser |