HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2729532G>T , CM000671.2:g.2729532G>T | GRCh38 |
NC_000009.11:g.2729532G>T , CM000671.1:g.2729532G>T | GRCh37 |
NC_000009.10:g.2719532G>T | NCBI36 |
NG_012181.1:g.17007G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000382082.4:c.1443G>T (KCNV2) MANE Select | ENSP00000371514.3:p.Gly481= | |
ENST00000382082.3:c.1443G>T (KCNV2) | ENSP00000371514.3:p.Gly481= | |
ENST00000490444.2:c.277-9000C>A (PUM3) | ENSP00000474467.1:n.277-9000C>A | |
NM_133497.3:c.1443G>T (KCNV2) | NP_598004.1:p.Gly481= | |
NM_133497.4:c.1443G>T (KCNV2) MANE Select | NP_598004.1:p.Gly481= |