Linked Data
dbSNP Id:
rs989684765
gnomAD v2:
8-10480126-A-C
gnomAD v3:
8-10622616-A-C
gnomAD v4:
8-10622616-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.10622616A>C , CM000670.2:g.10622616A>C | GRCh38 |
| NC_000008.10:g.10480126A>C , CM000670.1:g.10480126A>C | GRCh37 |
| NC_000008.9:g.10517536A>C | NCBI36 |
| NG_028035.1:g.37492T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382483.4:c.586T>G MANE Select | ENSP00000371923.3:p.Leu196Val | |
| ENST00000329335.3:n.836T>G | ||
| ENST00000382483.3:c.586T>G | ENSP00000371923.3:p.Leu196Val | |
| NM_178857.5:c.586T>G | NP_849188.4:p.Leu196Val | |
| NM_178857.6:c.586T>G MANE Select | NP_849188.4:p.Leu196Val |