HGVS | Genome Assembly |
---|---|
NC_000019.10:g.41003533T>G , CM000681.2:g.41003533T>G | GRCh38 |
NC_000019.9:g.41509438T>G , CM000681.1:g.41509438T>G | GRCh37 |
NC_000019.8:g.46201278T>G | NCBI36 |
NG_007929.1:g.17235T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000324071.10:c.172-468T>G MANE Select | ENSP00000324648.2:n.172-468T>G | |
ENST00000598834.2:c.74-468T>G | ||
ENST00000324071.8:c.172-468T>G | ENSP00000324648.2:n.172-468T>G | |
ENST00000598834.1:n.74-468T>G | ||
NM_000767.4:c.172-468T>G | NP_000758.1:n.172-468T>G | |
XM_005258569.3:c.172-468T>G | XP_005258626.1:n.172-468T>G | |
XM_006723050.2:c.172-468T>G | XP_006723113.1:n.172-468T>G | |
XM_011526546.1:c.172-468T>G | XP_011524848.1:n.172-468T>G | |
XM_011526547.1:c.172-468T>G | XP_011524849.1:n.172-468T>G | |
XM_011526548.1:c.172-468T>G | XP_011524850.1:n.172-468T>G | |
NM_000767.5:c.172-468T>G MANE Select | NP_000758.1:n.172-468T>G |