HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177442289C>G , CM000666.2:g.177442289C>G | GRCh38 |
NC_000004.11:g.178363443C>G , CM000666.1:g.178363443C>G | GRCh37 |
NC_000004.10:g.178600437C>G | NCBI36 |
NG_011845.2:g.5215G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000264595.7:c.87G>C MANE Select | ENSP00000264595.2:p.Leu29= | |
ENST00000264595.6:c.87G>C | ENSP00000264595.2:p.Leu29= | |
ENST00000506853.5:n.121G>C | ||
ENST00000510955.5:n.121G>C | ||
ENST00000511231.1:n.121G>C | ||
NM_000027.3:c.87G>C | NP_000018.2:p.Leu29= | |
NM_001171988.1:c.87G>C | NP_001165459.1:p.Leu29= | |
NR_033655.1:n.215G>C | ||
XM_006714123.2:c.87G>C | XP_006714186.1:p.Leu29= | |
XR_001741155.2:n.181G>C | ||
NM_000027.4:c.87G>C MANE Select | NP_000018.2:p.Leu29= | |
NM_001171988.2:c.87G>C | NP_001165459.1:p.Leu29= | |
NR_033655.2:n.149G>C |