HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203867913T>C , CM000664.2:g.203867913T>C | GRCh38 |
NC_000002.11:g.204732636T>C , CM000664.1:g.204732636T>C | GRCh37 |
NC_000002.10:g.204440881T>C | NCBI36 |
NG_011502.1:g.5128T>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696049.1:c.-30T>C | ENSP00000512353.1:n.-30T>C | |
ENST00000696479.1:c.48-5T>C | ENSP00000512655.1:n.48-5T>C | |
ENST00000648405.2:c.-30T>C MANE Select | ENSP00000497102.1:n.-30T>C | |
ENST00000302823.7:c.-30T>C | ENSP00000303939.3:n.-30T>C | |
NM_001037631.2:c.-30T>C | NP_001032720.1:n.-30T>C | |
NM_005214.4:c.-30T>C | NP_005205.2:n.-30T>C | |
XR_241294.1:n.111T>C | ||
NM_001037631.3:c.-30T>C | NP_001032720.1:n.-30T>C | |
NM_005214.5:c.-30T>C MANE Select | NP_005205.2:n.-30T>C |