HGVS | Genome Assembly |
---|---|
NC_000015.10:g.66781148G>C , CM000677.2:g.66781148G>C | GRCh38 |
NC_000015.9:g.67073486G>C , CM000677.1:g.67073486G>C | GRCh37 |
NC_000015.8:g.64860540G>C | NCBI36 |
NG_012244.1:g.83813G>C | |
NG_012244.2:g.83813G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000288840.10:c.1104G>C MANE Select | ENSP00000288840.5:p.Leu368= | |
ENST00000288840.9:c.1104G>C | ENSP00000288840.5:p.Leu368= | |
ENST00000557916.5:c.1236G>C | ENSP00000452955.1:n.1236G>C | |
ENST00000559931.5:c.408G>C | ENSP00000453446.1:n.408G>C | |
NM_005585.4:c.1104G>C | NP_005576.3:p.Leu368= | |
NR_027654.1:n.2159G>C | ||
XM_011521561.1:c.321G>C | XP_011519863.1:p.Leu107= | |
XR_931825.1:n.2503G>C | ||
XM_011521561.2:c.321G>C | XP_011519863.1:p.Leu107= | |
NM_005585.5:c.1104G>C MANE Select | NP_005576.3:p.Leu368= | |
NR_027654.2:n.2259G>C |