HGVS | Genome Assembly |
---|---|
NC_000009.12:g.134835134T>G , CM000671.2:g.134835134T>G | GRCh38 |
NC_000009.11:g.137726980T>G , CM000671.1:g.137726980T>G | GRCh37 |
NC_000009.10:g.136866801T>G | NCBI36 |
NG_008030.1:g.198329T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000371820.4:c.5300T>G | ENSP00000360885.4:p.Leu1767Arg | |
ENST00000371817.8:c.5300T>G MANE Select | ENSP00000360882.3:p.Leu1767Arg | |
ENST00000371817.7:c.5300T>G | ENSP00000360882.3:p.Leu1767Arg | |
ENST00000371820.3:c.558T>G | ||
ENST00000618395.4:c.5300T>G | ENSP00000481360.1:p.Leu1767Arg | |
NM_000093.4:c.5300T>G | NP_000084.3:p.Leu1767Arg | |
NM_001278074.1:c.5300T>G | NP_001265003.1:p.Leu1767Arg | |
NR_103451.2:n.71-14925A>C | ||
NM_000093.5:c.5300T>G MANE Select | NP_000084.3:p.Leu1767Arg |