HGVS | Genome Assembly |
---|---|
NC_000002.12:g.203867929G>A , CM000664.2:g.203867929G>A | GRCh38 |
NC_000002.11:g.204732652G>A , CM000664.1:g.204732652G>A | GRCh37 |
NC_000002.10:g.204440897G>A | NCBI36 |
NG_011502.1:g.5144G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000696049.1:c.-14G>A | ENSP00000512353.1:n.-14G>A | |
ENST00000696479.1:c.59G>A | ENSP00000512655.1:p.Arg20His | |
ENST00000648405.2:c.-14G>A MANE Select | ENSP00000497102.1:n.-14G>A | |
ENST00000302823.7:c.-14G>A | ENSP00000303939.3:n.-14G>A | |
NM_001037631.2:c.-14G>A | NP_001032720.1:n.-14G>A | |
NM_005214.4:c.-14G>A | NP_005205.2:n.-14G>A | |
XR_241294.1:n.127G>A | ||
NM_001037631.3:c.-14G>A | NP_001032720.1:n.-14G>A | |
NM_005214.5:c.-14G>A MANE Select | NP_005205.2:n.-14G>A |