HGVS | Genome Assembly |
---|---|
NC_000022.11:g.32474867T>G , CM000684.2:g.32474867T>G | GRCh38 |
NC_000022.10:g.32870854T>G , CM000684.1:g.32870854T>G | GRCh37 |
NC_000022.9:g.31200854T>G | NCBI36 |
NG_016001.1:g.5148T>G | |
NG_016001.2:g.5148T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000266087.12:c.-136T>G MANE Select | ENSP00000266087.7:n.-136T>G | |
ENST00000266087.11:c.-136T>G | ENSP00000266087.7:n.-136T>G | |
ENST00000420700.5:c.-136T>G | ENSP00000406155.1:n.-136T>G | |
ENST00000425028.5:c.-136T>G | ENSP00000395823.1:n.-136T>G | |
NM_012179.3:c.-136T>G | NP_036311.3:n.-136T>G | |
XM_011530106.1:c.-309T>G | XP_011528408.1:n.-309T>G | |
XM_024452207.1:c.-326T>G | XP_024307975.1:n.-326T>G | |
NM_012179.4:c.-136T>G MANE Select | NP_036311.3:n.-136T>G |