HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128312640T>G , CM000667.2:g.128312640T>G | GRCh38 |
NC_000005.9:g.127648332T>G , CM000667.1:g.127648332T>G | GRCh37 |
NC_000005.8:g.127676231T>G | NCBI36 |
NG_008750.1:g.230404A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703783.1:n.1657A>C | ||
ENST00000703785.1:n.1583-687A>C | ||
ENST00000262464.9:c.4873A>C MANE Select | ENSP00000262464.4:p.Asn1625His | |
ENST00000262464.8:c.4873A>C | ENSP00000262464.4:p.Asn1625His | |
ENST00000508053.5:c.4873A>C | ENSP00000424571.1:p.Asn1625His | |
ENST00000619499.4:c.4870A>C | ENSP00000482132.1:p.Asn1624His | |
NM_001999.3:c.4873A>C | NP_001990.2:p.Asn1625His | |
XM_017009228.2:c.4720A>C | XP_016864717.1:p.Asn1574His | |
NM_001999.4:c.4873A>C MANE Select | NP_001990.2:p.Asn1625His |