HGVS | Genome Assembly |
---|---|
NC_000003.12:g.98585545G>A , CM000665.2:g.98585545G>A | GRCh38 |
NC_000003.11:g.98304389G>A , CM000665.1:g.98304389G>A | GRCh37 |
NC_000003.10:g.99787079G>A | NCBI36 |
NG_015994.1:g.13067C>T | |
NG_015994.2:g.13067C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647941.2:c.1068C>T MANE Select | ENSP00000497326.1:p.Ser356= | |
ENST00000264193.2:c.1068C>T | ENSP00000264193.2:p.Ser356= | |
ENST00000510489.1:n.318C>T | ||
NM_000097.5:c.1068C>T | NP_000088.3:p.Ser356= | |
XM_005247125.3:c.1068C>T | XP_005247182.1:p.Ser356= | |
NM_000097.7:c.1068C>T MANE Select | NP_000088.3:p.Ser356= | |
XM_005247125.4:c.1068C>T | XP_005247182.1:p.Ser356= | |
XR_001740025.2:n.1239C>T | ||
XR_001740026.1:n.1803C>T | ||
XR_001740027.1:n.1343C>T | ||
XR_001740028.1:n.1309C>T |