HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2729749G>C , CM000671.2:g.2729749G>C | GRCh38 |
NC_000009.11:g.2729749G>C , CM000671.1:g.2729749G>C | GRCh37 |
NC_000009.10:g.2719749G>C | NCBI36 |
NG_012181.1:g.17224G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382082.4:c.*22G>C (KCNV2) MANE Select | ENSP00000371514.3:n.*22G>C | |
ENST00000382082.3:c.*22G>C (KCNV2) | ENSP00000371514.3:n.*22G>C | |
ENST00000490444.2:c.277-9217C>G (PUM3) | ENSP00000474467.1:n.277-9217C>G | |
NM_133497.3:c.*22G>C (KCNV2) | NP_598004.1:n.*22G>C | |
NM_133497.4:c.*22G>C (KCNV2) MANE Select | NP_598004.1:n.*22G>C |