Linked Data
dbSNP Id:
rs781267892
ExAC:
8:10470305 T / C
gnomAD v2:
8-10470305-T-C
gnomAD v3:
8-10612795-T-C
gnomAD v4:
8-10612795-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612795T>C , CM000670.2:g.10612795T>C | GRCh38 |
| NC_000008.10:g.10470305T>C , CM000670.1:g.10470305T>C | GRCh37 |
| NC_000008.9:g.10507715T>C | NCBI36 |
| NG_028035.1:g.47313A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1303A>G MANE Select | ENSP00000371923.3:p.Ser435Gly | |
| ENST00000382483.3:c.1303A>G | ENSP00000371923.3:p.Ser435Gly | |
| NM_178857.5:c.1303A>G | NP_849188.4:p.Ser435Gly | |
| NM_178857.6:c.1303A>G MANE Select | NP_849188.4:p.Ser435Gly |