HGVS | Genome Assembly |
---|---|
NC_000001.11:g.160139663T>C , CM000663.2:g.160139663T>C | GRCh38 |
NC_000001.10:g.160109453T>C , CM000663.1:g.160109453T>C | GRCh37 |
NC_000001.9:g.158376077T>C | NCBI36 |
NG_008014.1:g.28906T>C , LRG_6:g.28906T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361216.8:c.2864T>C MANE Select | ENSP00000354490.3:p.Leu955Pro | |
ENST00000361216.7:c.2864T>C | ENSP00000354490.3:p.Leu955Pro | |
ENST00000392233.7:c.2864T>C | ENSP00000376066.3:p.Leu955Pro | |
ENST00000447527.1:c.1945T>C | ||
ENST00000463989.1:n.200T>C | ||
NM_000702.3:c.2864T>C | NP_000693.1:p.Leu955Pro | |
NM_000702.4:c.2864T>C MANE Select | NP_000693.1:p.Leu955Pro |