HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2729488A>G , CM000671.2:g.2729488A>G | GRCh38 |
NC_000009.11:g.2729488A>G , CM000671.1:g.2729488A>G | GRCh37 |
NC_000009.10:g.2719488A>G | NCBI36 |
NG_012181.1:g.16963A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382082.4:c.1399A>G (KCNV2) MANE Select | ENSP00000371514.3:p.Thr467Ala | |
ENST00000382082.3:c.1399A>G (KCNV2) | ENSP00000371514.3:p.Thr467Ala | |
ENST00000490444.2:c.277-8956T>C (PUM3) | ENSP00000474467.1:n.277-8956T>C | |
NM_133497.3:c.1399A>G (KCNV2) | NP_598004.1:p.Thr467Ala | |
XR_929202.1:n.2044A>G (KCNV2) | ||
NM_133497.4:c.1399A>G (KCNV2) MANE Select | NP_598004.1:p.Thr467Ala |