HGVS | Genome Assembly |
---|---|
NC_000001.11:g.2303383G>T , CM000663.2:g.2303383G>T | GRCh38 |
NC_000001.10:g.2234822G>T , CM000663.1:g.2234822G>T | GRCh37 |
NC_000001.9:g.2224682G>T | NCBI36 |
NG_013084.1:g.79689G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000704337.1:n.362G>T | ||
ENST00000378536.5:c.1194G>T MANE Select | ENSP00000367797.4:p.Pro398= | |
ENST00000378536.4:c.1194G>T | ENSP00000367797.4:p.Pro398= | |
NM_003036.3:c.1194G>T | NP_003027.1:p.Pro398= | |
XM_005244775.2:c.1194G>T | XP_005244832.1:p.Pro398= | |
XM_005244776.3:c.324G>T | XP_005244833.1:p.Pro108= | |
XM_005244775.3:c.1194G>T | XP_005244832.1:p.Pro398= | |
XM_005244776.4:c.324G>T | XP_005244833.1:p.Pro108= | |
XM_017002128.1:c.702G>T | XP_016857617.1:p.Pro234= | |
NM_003036.4:c.1194G>T MANE Select | NP_003027.1:p.Pro398= |