Linked Data
dbSNP Id:
rs761265019
ExAC:
6:121768591 C / G
gnomAD v2:
6-121768591-C-G
gnomAD v4:
6-121447445-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.121447445C>G , CM000668.2:g.121447445C>G | GRCh38 |
| NC_000006.11:g.121768591C>G , CM000668.1:g.121768591C>G | GRCh37 |
| NC_000006.10:g.121810290C>G | NCBI36 |
| NG_008308.1:g.16847C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282561.4:c.598C>G MANE Select | ENSP00000282561.3:p.Leu200Val | |
| ENST00000647564.1:c.598C>G | ENSP00000497565.1:p.Leu200Val | |
| ENST00000649003.1:c.598C>G | ENSP00000497283.1:p.Leu200Val | |
| ENST00000650427.1:c.598C>G | ENSP00000497367.1:p.Leu200Val | |
| ENST00000282561.3:c.598C>G | ENSP00000282561.3:p.Leu200Val | |
| NM_000165.4:c.598C>G | NP_000156.1:p.Leu200Val | |
| NM_000165.5:c.598C>G MANE Select | NP_000156.1:p.Leu200Val |