HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128357388A>C , CM000667.2:g.128357388A>C | GRCh38 |
NC_000005.9:g.127693080A>C , CM000667.1:g.127693080A>C | GRCh37 |
NC_000005.8:g.127720979A>C | NCBI36 |
NG_008750.1:g.185656T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000262464.9:c.2562T>G MANE Select | ENSP00000262464.4:p.Asn854Lys | |
ENST00000262464.8:c.2562T>G | ENSP00000262464.4:p.Asn854Lys | |
ENST00000508053.5:c.2562T>G | ENSP00000424571.1:p.Asn854Lys | |
ENST00000508989.5:c.2463T>G | ENSP00000425596.1:p.Asn821Lys | |
ENST00000619499.4:c.2559T>G | ENSP00000482132.1:p.Asn853Lys | |
NM_001999.3:c.2562T>G | NP_001990.2:p.Asn854Lys | |
XM_017009228.2:c.2409T>G | XP_016864717.1:p.Asn803Lys | |
NM_001999.4:c.2562T>G MANE Select | NP_001990.2:p.Asn854Lys |