HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2729071C>T , CM000671.2:g.2729071C>T | GRCh38 |
NC_000009.11:g.2729071C>T , CM000671.1:g.2729071C>T | GRCh37 |
NC_000009.10:g.2719071C>T | NCBI36 |
NG_012181.1:g.16546C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382082.4:c.1357-375C>T (KCNV2) MANE Select | ENSP00000371514.3:n.1357-375C>T | |
ENST00000382082.3:c.1357-375C>T (KCNV2) | ENSP00000371514.3:n.1357-375C>T | |
ENST00000490444.2:c.277-8539G>A (PUM3) | ENSP00000474467.1:n.277-8539G>A | |
NM_133497.3:c.1357-375C>T (KCNV2) | NP_598004.1:n.1357-375C>T | |
XR_929202.1:n.2002-375C>T (KCNV2) | ||
XR_929203.1:n.2047C>T (KCNV2) | ||
NM_133497.4:c.1357-375C>T (KCNV2) MANE Select | NP_598004.1:n.1357-375C>T |