HGVS | Genome Assembly |
---|---|
NC_000003.12:g.98585535C>A , CM000665.2:g.98585535C>A | GRCh38 |
NC_000003.11:g.98304379C>A , CM000665.1:g.98304379C>A | GRCh37 |
NC_000003.10:g.99787069C>A | NCBI36 |
NG_015994.1:g.13077G>T | |
NG_015994.2:g.13077G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647941.2:c.1078G>T MANE Select | ENSP00000497326.1:p.Ala360Ser | |
ENST00000264193.2:c.1078G>T | ENSP00000264193.2:p.Ala360Ser | |
ENST00000510489.1:n.328G>T | ||
NM_000097.5:c.1078G>T | NP_000088.3:p.Ala360Ser | |
XM_005247125.3:c.1078G>T | XP_005247182.1:p.Ala360Ser | |
NM_000097.7:c.1078G>T MANE Select | NP_000088.3:p.Ala360Ser | |
XM_005247125.4:c.1078G>T | XP_005247182.1:p.Ala360Ser | |
XR_001740025.2:n.1249G>T | ||
XR_001740026.1:n.1813G>T | ||
XR_001740027.1:n.1353G>T | ||
XR_001740028.1:n.1319G>T |