HGVS | Genome Assembly |
---|---|
NC_000007.14:g.146351687G>T , CM000669.2:g.146351687G>T | GRCh38 |
NC_000007.13:g.146048779G>T , CM000669.1:g.146048779G>T | GRCh37 |
NC_000007.12:g.145679712G>T | NCBI36 |
NG_007092.2:g.240327G>T | |
NG_007092.3:g.240687G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000361727.8:c.97+234714G>T MANE Select | ENSP00000354778.3:n.97+234714G>T | |
ENST00000637150.1:n.26+234714G>T | ||
ENST00000361727.7:c.97+234714G>T | ENSP00000354778.3:n.97+234714G>T | |
ENST00000625365.2:c.97+234714G>T | ENSP00000485955.1:n.97+234714G>T | |
NM_014141.5:c.97+234714G>T | NP_054860.1:n.97+234714G>T | |
XM_017011950.2:c.97+234714G>T | XP_016867439.1:n.97+234714G>T | |
NM_014141.6:c.97+234714G>T MANE Select | NP_054860.1:n.97+234714G>T |