HGVS | Genome Assembly |
---|---|
NC_000015.10:g.68422693A>G , CM000677.2:g.68422693A>G | GRCh38 |
NC_000015.9:g.68715032A>G , CM000677.1:g.68715032A>G | GRCh37 |
NC_000015.8:g.66502086A>G | NCBI36 |
NG_046911.1:g.14468T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000315757.9:c.52+9322T>C MANE Select | ENSP00000327290.7:n.52+9322T>C | |
ENST00000315757.8:c.52+9322T>C | ENSP00000327290.7:n.52+9322T>C | |
ENST00000423218.6:c.52+9322T>C | ENSP00000403392.2:n.52+9322T>C | |
NM_001004439.1:c.52+9322T>C | NP_001004439.1:n.52+9322T>C | |
XM_011521363.1:c.52+9322T>C | XP_011519665.1:n.52+9322T>C | |
XM_011521363.2:c.52+9322T>C | XP_011519665.1:n.52+9322T>C | |
NM_001004439.2:c.52+9322T>C MANE Select | NP_001004439.1:n.52+9322T>C |