HGVS | Genome Assembly |
---|---|
NC_000004.12:g.17681157A>G , CM000666.2:g.17681157A>G | GRCh38 |
NC_000004.11:g.17682780A>G , CM000666.1:g.17682780A>G | GRCh37 |
NC_000004.10:g.17291878A>G | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000265018.4:c.1596+7267T>C MANE Select | ENSP00000265018.3:n.1596+7267T>C | |
ENST00000265018.3:c.1596+7267T>C | ENSP00000265018.3:n.1596+7267T>C | |
NM_015688.1:c.1596+7267T>C | NP_056503.1:n.1596+7267T>C | |
XM_011513834.1:c.1596+7267T>C | XP_011512136.1:n.1596+7267T>C | |
NM_015688.2:c.1596+7267T>C MANE Select | NP_056503.1:n.1596+7267T>C |