HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128305054G>T , CM000667.2:g.128305054G>T | GRCh38 |
NC_000005.9:g.127640746G>T , CM000667.1:g.127640746G>T | GRCh37 |
NC_000005.8:g.127668645G>T | NCBI36 |
NG_008750.1:g.237990C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000703783.1:n.2487C>A | ||
ENST00000703785.1:n.2406C>A | ||
ENST00000262464.9:c.5703C>A MANE Select | ENSP00000262464.4:p.Asn1901Lys | |
ENST00000262464.8:c.5703C>A | ENSP00000262464.4:p.Asn1901Lys | |
ENST00000508053.5:c.5703C>A | ENSP00000424571.1:p.Asn1901Lys | |
ENST00000619499.4:c.5700C>A | ENSP00000482132.1:p.Asn1900Lys | |
NM_001999.3:c.5703C>A | NP_001990.2:p.Asn1901Lys | |
XM_017009228.2:c.5550C>A | XP_016864717.1:p.Asn1850Lys | |
NM_001999.4:c.5703C>A MANE Select | NP_001990.2:p.Asn1901Lys |