HGVS | Genome Assembly |
---|---|
NC_000002.12:g.202467585C>T , CM000664.2:g.202467585C>T | GRCh38 |
NC_000002.11:g.203332308C>T , CM000664.1:g.203332308C>T | GRCh37 |
NC_000002.10:g.203040553C>T | NCBI36 |
NG_009363.1:g.96259C>T , LRG_712:g.96259C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000374580.10:c.314C>T MANE Select | ENSP00000363708.4:p.Pro105Leu | |
ENST00000638587.1:c.245C>T | ENSP00000491062.1:p.Pro82Leu | |
ENST00000374574.2:c.314C>T | ENSP00000363702.2:p.Pro105Leu | |
ENST00000374580.8:c.314C>T | ENSP00000363708.4:p.Pro105Leu | |
ENST00000479069.1:n.221C>T | ||
NM_001204.6:c.314C>T , LRG_712t1:c.314C>T | NP_001195.2:p.Pro105Leu | |
XM_011511687.1:c.314C>T | XP_011509989.1:p.Pro105Leu | |
XM_011511688.1:c.314C>T | XP_011509990.1:p.Pro105Leu | |
NM_001204.7:c.314C>T MANE Select | NP_001195.2:p.Pro105Leu |