Linked Data
dbSNP Id:
rs751363787
ExAC:
8:10470458 G / C
gnomAD v2:
8-10470458-G-C
gnomAD v4:
8-10612948-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10612948G>C , CM000670.2:g.10612948G>C | GRCh38 |
| NC_000008.10:g.10470458G>C , CM000670.1:g.10470458G>C | GRCh37 |
| NC_000008.9:g.10507868G>C | NCBI36 |
| NG_028035.1:g.47160C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.1150C>G MANE Select | ENSP00000371923.3:p.Pro384Ala | |
| ENST00000382483.3:c.1150C>G | ENSP00000371923.3:p.Pro384Ala | |
| NM_178857.5:c.1150C>G | NP_849188.4:p.Pro384Ala | |
| NM_178857.6:c.1150C>G MANE Select | NP_849188.4:p.Pro384Ala |