HGVS | Genome Assembly |
---|---|
NC_000012.12:g.65188477C>T , CM000674.2:g.65188477C>T | GRCh38 |
NC_000012.11:g.65582257C>T , CM000674.1:g.65582257C>T | GRCh37 |
NC_000012.10:g.63868524C>T | NCBI36 |
NG_016210.1:g.23907C>T | |
NG_016210.2:g.23907C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000308330.3:c.1522+17359C>T MANE Select | ENSP00000308369.2:n.1522+17359C>T | |
ENST00000308330.2:c.1522+17359C>T | ENSP00000308369.2:n.1522+17359C>T | |
ENST00000541171.1:n.836+18059C>T | ||
NM_001167614.1:c.1522+17359C>T | NP_001161086.1:n.1522+17359C>T | |
NM_014319.4:c.1522+17359C>T | NP_055134.2:n.1522+17359C>T | |
NM_014319.5:c.1522+17359C>T MANE Select | NP_055134.2:n.1522+17359C>T | |
NM_001167614.2:c.1522+17359C>T | NP_001161086.1:n.1522+17359C>T |