HGVS | Genome Assembly |
---|---|
NC_000003.12:g.98585656A>G , CM000665.2:g.98585656A>G | GRCh38 |
NC_000003.11:g.98304500A>G , CM000665.1:g.98304500A>G | GRCh37 |
NC_000003.10:g.99787190A>G | NCBI36 |
NG_015994.1:g.12956T>C | |
NG_015994.2:g.12956T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647941.2:c.957T>C MANE Select | ENSP00000497326.1:p.Cys319= | |
ENST00000264193.2:c.957T>C | ENSP00000264193.2:p.Cys319= | |
ENST00000510489.1:n.207T>C | ||
NM_000097.5:c.957T>C | NP_000088.3:p.Cys319= | |
XM_005247125.3:c.957T>C | XP_005247182.1:p.Cys319= | |
NM_000097.7:c.957T>C MANE Select | NP_000088.3:p.Cys319= | |
XM_005247125.4:c.957T>C | XP_005247182.1:p.Cys319= | |
XR_001740025.2:n.1128T>C | ||
XR_001740026.1:n.1692T>C | ||
XR_001740027.1:n.1232T>C | ||
XR_001740028.1:n.1198T>C |