HGVS | Genome Assembly |
---|---|
NC_000006.12:g.30490191C>T , CM000668.2:g.30490191C>T | GRCh38 |
NC_000006.11:g.30457968C>T , CM000668.1:g.30457968C>T | GRCh37 |
NC_000006.10:g.30565947C>T | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000376630.5:c.335-49C>T MANE Select | ENSP00000365817.4:n.335-49C>T | |
ENST00000376630.4:c.335-49C>T | ENSP00000365817.4:n.335-49C>T | |
ENST00000484194.1:n.552C>T | ||
ENST00000493699.1:n.485-49C>T | ||
NM_005516.5:c.335-49C>T | NP_005507.3:n.335-49C>T | |
XM_017010807.1:c.458-49C>T | XP_016866296.1:n.458-49C>T | |
XM_017010808.1:c.458-49C>T | XP_016866297.1:n.458-49C>T | |
XM_017010809.2:c.335-49C>T | XP_016866298.1:n.335-49C>T | |
NM_005516.6:c.335-49C>T MANE Select | NP_005507.3:n.335-49C>T |