HGVS | Genome Assembly |
---|---|
NC_000023.11:g.155022721A>C , CM000685.2:g.155022721A>C | GRCh38 |
NC_000023.10:g.154250996A>C , CM000685.1:g.154250996A>C | GRCh37 |
NC_000023.9:g.153904190A>C | NCBI36 |
NG_011403.1:g.5003T>G | |
NG_011403.2:g.5003T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360256.9:c.-169T>G MANE Select | ENSP00000353393.4:n.-169T>G | |
ENST00000360256.8:c.-169T>G | ENSP00000353393.4:n.-169T>G | |
ENST00000423959.5:c.38+4059T>G | ENSP00000409446.1:n.38+4059T>G | |
ENST00000453950.1:c.39-225T>G | ENSP00000389153.1:n.39-225T>G | |
NM_000132.3:c.-169T>G | NP_000123.1:n.-169T>G | |
XM_011531126.1:c.38+4059T>G | XP_011529428.1:n.38+4059T>G | |
NM_000132.4:c.-169T>G MANE Select | NP_000123.1:n.-169T>G |