HGVS | Genome Assembly |
---|---|
NC_000005.10:g.128300912G>C , CM000667.2:g.128300912G>C | GRCh38 |
NC_000005.9:g.127636604G>C , CM000667.1:g.127636604G>C | GRCh37 |
NC_000005.8:g.127664503G>C | NCBI36 |
NG_008750.1:g.242132C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000703783.1:n.2855C>G | ||
ENST00000703785.1:n.2774C>G | ||
ENST00000262464.9:c.6071C>G MANE Select | ENSP00000262464.4:p.Pro2024Arg | |
ENST00000262464.8:c.6071C>G | ENSP00000262464.4:p.Pro2024Arg | |
ENST00000508053.5:c.6071C>G | ENSP00000424571.1:p.Pro2024Arg | |
ENST00000619499.4:c.6068C>G | ENSP00000482132.1:p.Pro2023Arg | |
NM_001999.3:c.6071C>G | NP_001990.2:p.Pro2024Arg | |
XM_017009228.2:c.5918C>G | XP_016864717.1:p.Pro1973Arg | |
NM_001999.4:c.6071C>G MANE Select | NP_001990.2:p.Pro2024Arg |