HGVS | Genome Assembly |
---|---|
NC_000003.12:g.98585519T>G , CM000665.2:g.98585519T>G | GRCh38 |
NC_000003.11:g.98304363T>G , CM000665.1:g.98304363T>G | GRCh37 |
NC_000003.10:g.99787053T>G | NCBI36 |
NG_015994.1:g.13093A>C | |
NG_015994.2:g.13093A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647941.2:c.1094A>C MANE Select | ENSP00000497326.1:p.Tyr365Ser | |
ENST00000264193.2:c.1094A>C | ENSP00000264193.2:p.Tyr365Ser | |
ENST00000510489.1:n.344A>C | ||
NM_000097.5:c.1094A>C | NP_000088.3:p.Tyr365Ser | |
XM_005247125.3:c.1094A>C | XP_005247182.1:p.Tyr365Ser | |
NM_000097.7:c.1094A>C MANE Select | NP_000088.3:p.Tyr365Ser | |
XM_005247125.4:c.1094A>C | XP_005247182.1:p.Tyr365Ser | |
XR_001740025.2:n.1265A>C | ||
XR_001740026.1:n.1829A>C | ||
XR_001740027.1:n.1369A>C | ||
XR_001740028.1:n.1335A>C |