Linked Data
dbSNP Id:
rs782317607
ExAC:
1:206224625 T / G
gnomAD v2:
1-206224625-T-G
gnomAD v4:
1-206116706-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.206116706A>C , CM000663.2:g.206116706A>C | GRCh38 |
| NC_000001.10:g.206224625T>G , CM000663.1:g.206224625T>G | GRCh37 |
| NC_000001.9:g.204391248T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000367126.5:c.185T>G MANE Select | ENSP00000356094.4:p.Leu62Arg | |
| ENST00000367126.4:c.185T>G | ENSP00000356094.4:p.Leu62Arg | |
| ENST00000612906.1:n.36+958T>G | ||
| NM_000707.3:c.185T>G | NP_000698.1:p.Leu62Arg | |
| NM_000707.4:c.185T>G | NP_000698.1:p.Leu62Arg | |
| NM_000707.5:c.185T>G MANE Select | NP_000698.1:p.Leu62Arg |