HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2729455T>G , CM000671.2:g.2729455T>G | GRCh38 |
NC_000009.11:g.2729455T>G , CM000671.1:g.2729455T>G | GRCh37 |
NC_000009.10:g.2719455T>G | NCBI36 |
NG_012181.1:g.16930T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382082.4:c.1366T>G (KCNV2) MANE Select | ENSP00000371514.3:p.Ser456Ala | |
ENST00000382082.3:c.1366T>G (KCNV2) | ENSP00000371514.3:p.Ser456Ala | |
ENST00000490444.2:c.277-8923A>C (PUM3) | ENSP00000474467.1:n.277-8923A>C | |
NM_133497.3:c.1366T>G (KCNV2) | NP_598004.1:p.Ser456Ala | |
XR_929202.1:n.2011T>G (KCNV2) | ||
NM_133497.4:c.1366T>G (KCNV2) MANE Select | NP_598004.1:p.Ser456Ala |