HGVS | Genome Assembly |
---|---|
NC_000022.11:g.42126617A>G , CM000684.2:g.42126617A>G | GRCh38 |
NC_000022.10:g.42522619A>G , CM000684.1:g.42522619A>G | GRCh37 |
NC_000022.9:g.40852563A>G | NCBI36 |
NG_008376.3:g.8375T>C | |
NG_008376.4:g.9194T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360124.10:c.1249T>C | ENSP00000353241.6:n.1249T>C | |
ENST00000645361.2:c.1451T>C MANE Select | ENSP00000496150.1:p.Leu484Pro | |
ENST00000359033.4:c.1298T>C | ENSP00000351927.4:p.Leu433Pro | |
ENST00000360124.9:c.1069T>C | ENSP00000353241.5:n.1069T>C | |
ENST00000360608.9:c.1451T>C | ENSP00000353820.5:p.Leu484Pro | |
ENST00000389970.7:c.1442T>C | ENSP00000374620.4:p.Leu481Pro | |
ENST00000488442.1:n.2175T>C | ||
NM_000106.5:c.1451T>C | NP_000097.3:p.Leu484Pro | |
NM_001025161.2:c.1298T>C | NP_001020332.2:p.Leu433Pro | |
XM_011529966.1:c.1451T>C | XP_011528268.1:p.Leu484Pro | |
XM_011529967.1:c.1451T>C | XP_011528269.1:p.Leu484Pro | |
XM_011529968.1:c.1451T>C | XP_011528270.1:p.Leu484Pro | |
XM_011529969.1:c.1307T>C | XP_011528271.1:p.Leu436Pro | |
XM_011529970.1:c.1298T>C | XP_011528272.1:p.Leu433Pro | |
XM_011529971.1:c.1307T>C | XP_011528273.1:p.Leu436Pro | |
NM_000106.6:c.1451T>C MANE Select | NP_000097.3:p.Leu484Pro | |
NM_001025161.3:c.1298T>C | NP_001020332.2:p.Leu433Pro |