Linked Data
dbSNP Id:
rs745637624
ExAC:
2:241814585 T / G
gnomAD v2:
2-241814585-T-G
gnomAD v3:
2-240875168-T-G
gnomAD v4:
2-240875168-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.240875168T>G , CM000664.2:g.240875168T>G | GRCh38 |
| NC_000002.11:g.241814585T>G , CM000664.1:g.241814585T>G | GRCh37 |
| NC_000002.10:g.241463258T>G | NCBI36 |
| NG_008005.1:g.11424T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307503.4:c.740T>G MANE Select | ENSP00000302620.3:p.Leu247Arg | |
| ENST00000307503.3:c.740T>G | ENSP00000302620.3:p.Leu247Arg | |
| ENST00000476698.1:n.392T>G | ||
| NM_000030.2:c.740T>G | NP_000021.1:p.Leu247Arg | |
| NM_000030.3:c.740T>G MANE Select | NP_000021.1:p.Leu247Arg |