HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2729066G>C , CM000671.2:g.2729066G>C | GRCh38 |
NC_000009.11:g.2729066G>C , CM000671.1:g.2729066G>C | GRCh37 |
NC_000009.10:g.2719066G>C | NCBI36 |
NG_012181.1:g.16541G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382082.4:c.1357-380G>C (KCNV2) MANE Select | ENSP00000371514.3:n.1357-380G>C | |
ENST00000382082.3:c.1357-380G>C (KCNV2) | ENSP00000371514.3:n.1357-380G>C | |
ENST00000490444.2:c.277-8534C>G (PUM3) | ENSP00000474467.1:n.277-8534C>G | |
NM_133497.3:c.1357-380G>C (KCNV2) | NP_598004.1:n.1357-380G>C | |
XR_929202.1:n.2002-380G>C (KCNV2) | ||
XR_929203.1:n.2042G>C (KCNV2) | ||
NM_133497.4:c.1357-380G>C (KCNV2) MANE Select | NP_598004.1:n.1357-380G>C |