HGVS | Genome Assembly |
---|---|
NC_000002.12:g.169154411T>G , CM000664.2:g.169154411T>G | GRCh38 |
NC_000002.11:g.170010921T>G , CM000664.1:g.170010921T>G | GRCh37 |
NC_000002.10:g.169719167T>G | NCBI36 |
NG_012634.1:g.213202A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000649046.1:c.12295+49A>C MANE Select | ENSP00000496870.1:n.12295+49A>C | |
ENST00000649153.1:c.3195+49A>C | ||
ENST00000650252.1:c.1323+49A>C | ENSP00000496887.1:n.1323+49A>C | |
ENST00000263816.7:c.12295+49A>C | ENSP00000263816.3:n.12295+49A>C | |
NM_004525.2:c.12295+49A>C | NP_004516.2:n.12295+49A>C | |
XM_011511183.1:c.12166+49A>C | XP_011509485.1:n.12166+49A>C | |
XM_011511184.1:c.10006+49A>C | XP_011509486.1:n.10006+49A>C | |
NM_004525.3:c.12295+49A>C MANE Select | NP_004516.2:n.12295+49A>C | |
XM_011511183.3:c.12166+49A>C | XP_011509485.1:n.12166+49A>C | |
XM_011511184.2:c.10006+49A>C | XP_011509486.1:n.10006+49A>C |