HGVS | Genome Assembly |
---|---|
NC_000003.12:g.98585759G>T , CM000665.2:g.98585759G>T | GRCh38 |
NC_000003.11:g.98304603G>T , CM000665.1:g.98304603G>T | GRCh37 |
NC_000003.10:g.99787293G>T | NCBI36 |
NG_015994.1:g.12853C>A | |
NG_015994.2:g.12853C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000647941.2:c.954-100C>A MANE Select | ENSP00000497326.1:n.954-100C>A | |
ENST00000264193.2:c.954-100C>A | ENSP00000264193.2:n.954-100C>A | |
ENST00000510489.1:n.104C>A | ||
NM_000097.5:c.954-100C>A | NP_000088.3:n.954-100C>A | |
XM_005247125.3:c.954-100C>A | XP_005247182.1:n.954-100C>A | |
NM_000097.7:c.954-100C>A MANE Select | NP_000088.3:n.954-100C>A | |
XM_005247125.4:c.954-100C>A | XP_005247182.1:n.954-100C>A | |
XR_001740025.2:n.1125-100C>A | ||
XR_001740026.1:n.1589C>A | ||
XR_001740027.1:n.1229-100C>A | ||
XR_001740028.1:n.1195-100C>A |