HGVS | Genome Assembly |
---|---|
NC_000003.12:g.98585509A>C , CM000665.2:g.98585509A>C | GRCh38 |
NC_000003.11:g.98304353A>C , CM000665.1:g.98304353A>C | GRCh37 |
NC_000003.10:g.99787043A>C | NCBI36 |
NG_015994.1:g.13103T>G | |
NG_015994.2:g.13103T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647941.2:c.1104T>G MANE Select | ENSP00000497326.1:p.Leu368= | |
ENST00000264193.2:c.1104T>G | ENSP00000264193.2:p.Leu368= | |
ENST00000510489.1:n.354T>G | ||
NM_000097.5:c.1104T>G | NP_000088.3:p.Leu368= | |
XM_005247125.3:c.1104T>G | XP_005247182.1:p.Leu368= | |
NM_000097.7:c.1104T>G MANE Select | NP_000088.3:p.Leu368= | |
XM_005247125.4:c.1104T>G | XP_005247182.1:p.Leu368= | |
XR_001740025.2:n.1275T>G | ||
XR_001740026.1:n.1839T>G | ||
XR_001740027.1:n.1379T>G | ||
XR_001740028.1:n.1345T>G |