HGVS | Genome Assembly |
---|---|
NC_000009.12:g.133257943G= , CM000671.2:g.133257943G= | GRCh38 |
NC_000009.11:g.136133330G= , CM000671.1:g.136133330G= | GRCh37 |
NC_000009.10:g.135123151G= | NCBI36 |
NG_006669.1:g.19724C= | |
NG_006669.2:g.22272C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000453660.4:n.269+154C= | ||
ENST00000647353.1:n.54-6791C= | ||
ENST00000651471.1:n.329+99C= | ||
ENST00000679909.1:c.28+17219C= | ENSP00000506089.1:n.28+17219C= | |
ENST00000453660.3:n.251+154C= | ||
ENST00000538324.2:c.239+154C= | ENSP00000483018.1:n.239+154C= | |
ENST00000611156.4:c.239+154C= | ENSP00000483265.1:n.239+154C= | |
NM_020469.2:c.239+154C= | NP_065202.2:n.239+154C= | |
NM_020469.3:c.239+154C= | NP_065202.2:n.239+154C= |