HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114674957A>G , CM000674.2:g.114674957A>G | GRCh38 |
NC_000012.11:g.115112762A>G , CM000674.1:g.115112762A>G | GRCh37 |
NC_000012.10:g.113597145A>G | NCBI36 |
NG_008315.1:g.14208T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000349155.7:c.1040-122T>C MANE Select | ENSP00000257567.2:n.1040-122T>C | |
ENST00000257566.7:c.1100-122T>C | ENSP00000257566.3:n.1100-122T>C | |
ENST00000349155.6:c.1040-122T>C | ENSP00000257567.2:n.1040-122T>C | |
ENST00000613550.1:c.1040-122T>C | ENSP00000480048.1:n.1040-122T>C | |
NM_005996.3:c.1040-122T>C | NP_005987.3:n.1040-122T>C | |
NM_016569.3:c.1100-122T>C | NP_057653.3:n.1100-122T>C | |
NM_005996.4:c.1040-122T>C MANE Select | NP_005987.3:n.1040-122T>C | |
NM_016569.4:c.1100-122T>C | NP_057653.3:n.1100-122T>C |