HGVS | Genome Assembly |
---|---|
NC_000006.12:g.132321978C>A , CM000668.2:g.132321978C>A | GRCh38 |
NC_000006.11:g.132643117C>A , CM000668.1:g.132643117C>A | GRCh37 |
NC_000006.10:g.132684810C>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367963.8:c.1305+701G>T MANE Select | ENSP00000356940.3:n.1305+701G>T | |
ENST00000336749.3:c.1101+701G>T | ENSP00000336998.3:n.1101+701G>T | |
ENST00000367963.7:c.1305+701G>T | ENSP00000356940.3:n.1305+701G>T | |
ENST00000489128.1:n.427+701G>T | ||
NM_015529.3:c.1305+701G>T | NP_056344.2:n.1305+701G>T | |
XM_017010714.2:c.1200+701G>T | XP_016866203.1:n.1200+701G>T | |
NM_015529.4:c.1305+701G>T MANE Select | NP_056344.2:n.1305+701G>T |