HGVS | Genome Assembly |
---|---|
NC_000002.12:g.97738085A>C , CM000664.2:g.97738085A>C | GRCh38 |
NC_000002.11:g.98354548A>C , CM000664.1:g.98354548A>C | GRCh37 |
NC_000002.10:g.97720980A>C | NCBI36 |
NG_007727.1:g.29518A>C , LRG_126:g.29518A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000698508.1:c.1714A>C | ENSP00000513759.1:p.Met572Leu | |
ENST00000698509.1:n.1854A>C | ||
ENST00000264972.10:c.1714A>C MANE Select | ENSP00000264972.5:p.Met572Leu | |
ENST00000264972.9:c.1714A>C | ENSP00000264972.5:p.Met572Leu | |
ENST00000451498.2:c.793A>C | ENSP00000400475.2:p.Met265Leu | |
ENST00000463643.5:n.1575A>C | ||
ENST00000487283.5:n.2766A>C | ||
ENST00000489250.1:n.167A>C | ||
NM_001079.3:c.1714A>C , LRG_126t1:c.1714A>C | NP_001070.2:p.Met572Leu | |
NM_207519.1:c.793A>C | NP_997402.1:p.Met265Leu | |
XM_005264015.3:c.1696A>C | XP_005264072.1:p.Met566Leu | |
XM_006712728.2:c.1714A>C | XP_006712791.1:p.Met572Leu | |
XM_011511783.1:c.1714A>C | XP_011510085.1:p.Met572Leu | |
XR_923018.1:n.1916A>C | ||
XR_923019.1:n.1916A>C | ||
XR_923020.1:n.1916A>C | ||
XM_017004867.1:c.2083A>C | XP_016860356.1:p.Met695Leu | |
XM_017004868.1:c.2065A>C | XP_016860357.1:p.Met689Leu | |
XM_017004869.1:c.2083A>C | XP_016860358.1:p.Met695Leu | |
XM_017004870.1:c.2083A>C | XP_016860359.1:p.Met695Leu | |
XR_001738925.1:n.3322A>C | ||
XR_001738926.1:n.3322A>C | ||
XR_001738927.1:n.3322A>C | ||
NM_001079.4:c.1714A>C MANE Select | NP_001070.2:p.Met572Leu | |
NM_001378594.1:c.1714A>C | NP_001365523.1:p.Met572Leu | |
NM_207519.2:c.793A>C | NP_997402.1:p.Met265Leu |