HGVS | Genome Assembly |
---|---|
NC_000019.10:g.11426971C>G , CM000681.2:g.11426971C>G | GRCh38 |
NC_000019.9:g.11537791C>G , CM000681.1:g.11537791C>G | GRCh37 |
NC_000019.8:g.11398791C>G | NCBI36 |
NG_041777.1:g.13812G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000356392.9:c.514G>C MANE Select | ENSP00000348757.3:p.Val172Leu | |
ENST00000356392.8:c.514G>C | ENSP00000348757.3:p.Val172Leu | |
ENST00000586836.5:c.-60G>C | ENSP00000467429.1:n.-60G>C | |
ENST00000591179.5:c.436G>C | ENSP00000466800.1:p.Val146Leu | |
ENST00000591345.5:c.*433G>C | ENSP00000467313.1:n.*433G>C | |
NM_001302453.1:c.352G>C | NP_001289382.1:p.Val118Leu | |
NM_001302454.1:c.436G>C | NP_001289383.1:p.Val146Leu | |
NM_145045.4:c.514G>C | NP_659482.3:p.Val172Leu | |
XM_017026241.1:c.514G>C | XP_016881730.1:p.Val172Leu | |
NM_145045.5:c.514G>C MANE Select | NP_659482.3:p.Val172Leu | |
NM_001302454.2:c.436G>C | NP_001289383.1:p.Val146Leu |