HGVS | Genome Assembly |
---|---|
NC_000018.10:g.21815729G>C , CM000680.2:g.21815729G>C | GRCh38 |
NC_000018.9:g.19395690G>C , CM000680.1:g.19395690G>C | GRCh37 |
NC_000018.8:g.17649688G>C | NCBI36 |
NG_033272.2:g.115773G>C , LRG_759:g.115773G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000261537.7:c.1593G>C MANE Select | ENSP00000261537.6:p.Gln531His | |
ENST00000261537.6:c.1593G>C | ENSP00000261537.6:p.Gln531His | |
ENST00000577749.5:n.578G>C | ||
ENST00000578260.1:n.396G>C | ||
ENST00000578646.5:n.1570G>C | ||
NM_020774.3:c.1593G>C , LRG_759t1:c.1593G>C | NP_065825.1:p.Gln531His | |
XM_011526098.1:c.123G>C | XP_011524400.1:p.Gln41His | |
XM_017025873.1:c.1077G>C | XP_016881362.1:p.Gln359His | |
NM_020774.4:c.1593G>C MANE Select | NP_065825.1:p.Gln531His |