HGVS | Genome Assembly |
---|---|
NC_000009.12:g.2729473G>A , CM000671.2:g.2729473G>A | GRCh38 |
NC_000009.11:g.2729473G>A , CM000671.1:g.2729473G>A | GRCh37 |
NC_000009.10:g.2719473G>A | NCBI36 |
NG_012181.1:g.16948G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000382082.4:c.1384G>A (KCNV2) MANE Select | ENSP00000371514.3:p.Asp462Asn | |
ENST00000382082.3:c.1384G>A (KCNV2) | ENSP00000371514.3:p.Asp462Asn | |
ENST00000490444.2:c.277-8941C>T (PUM3) | ENSP00000474467.1:n.277-8941C>T | |
NM_133497.3:c.1384G>A (KCNV2) | NP_598004.1:p.Asp462Asn | |
XR_929202.1:n.2029G>A (KCNV2) | ||
NM_133497.4:c.1384G>A (KCNV2) MANE Select | NP_598004.1:p.Asp462Asn |