HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38071011T>C , CM000664.2:g.38071011T>C | GRCh38 |
NC_000002.11:g.38298154T>C , CM000664.1:g.38298154T>C | GRCh37 |
NC_000002.10:g.38151658T>C | NCBI36 |
NG_008386.2:g.10091A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000490576.2:c.1343A>G | ENSP00000478839.2:p.Lys448Arg | |
ENST00000610745.5:c.1343A>G MANE Select | ENSP00000478561.1:p.Lys448Arg | |
ENST00000492443.1:n.721A>G | ||
ENST00000494864.1:c.230A>G | ENSP00000479876.1:p.Lys77Arg | |
ENST00000610745.4:c.1343A>G | ENSP00000478561.1:p.Lys448Arg | |
ENST00000614273.1:c.1343A>G | ENSP00000483678.1:p.Lys448Arg | |
NM_000104.3:c.1343A>G | NP_000095.2:p.Lys448Arg | |
NM_000104.4:c.1343A>G MANE Select | NP_000095.2:p.Lys448Arg |