Linked Data
dbSNP Id:
rs758699416
ExAC:
8:10480263 G / C
gnomAD v2:
8-10480263-G-C
gnomAD v3:
8-10622753-G-C
gnomAD v4:
8-10622753-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622753G>C , CM000670.2:g.10622753G>C | GRCh38 |
| NC_000008.10:g.10480263G>C , CM000670.1:g.10480263G>C | GRCh37 |
| NC_000008.9:g.10517673G>C | NCBI36 |
| NG_028035.1:g.37355C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.449C>G MANE Select | ENSP00000371923.3:p.Thr150Ser | |
| ENST00000329335.3:n.699C>G | ||
| ENST00000382483.3:c.449C>G | ENSP00000371923.3:p.Thr150Ser | |
| NM_178857.5:c.449C>G | NP_849188.4:p.Thr150Ser | |
| NM_178857.6:c.449C>G MANE Select | NP_849188.4:p.Thr150Ser |