HGVS | Genome Assembly |
---|---|
NC_000002.12:g.218882247T>C , CM000664.2:g.218882247T>C | GRCh38 |
NC_000002.11:g.219746969T>C , CM000664.1:g.219746969T>C | GRCh37 |
NC_000002.10:g.219455213T>C | NCBI36 |
NG_012179.1:g.6715T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000258411.8:c.200T>C MANE Select | ENSP00000258411.3:p.Leu67Pro | |
ENST00000258411.7:c.200T>C | ENSP00000258411.3:p.Leu67Pro | |
ENST00000458582.1:c.87T>C | ||
NM_025216.2:c.200T>C | NP_079492.2:p.Leu67Pro | |
XM_011511928.1:c.149T>C | XP_011510230.1:p.Leu50Pro | |
XM_011511929.1:c.104T>C | XP_011510231.1:p.Leu35Pro | |
XM_011511930.1:c.200T>C | XP_011510232.1:p.Leu67Pro | |
XM_011511929.2:c.104T>C | XP_011510231.1:p.Leu35Pro | |
NM_025216.3:c.200T>C MANE Select | NP_079492.2:p.Leu67Pro |