HGVS | Genome Assembly |
---|---|
NC_000002.12:g.27085226G>C , CM000664.2:g.27085226G>C | GRCh38 |
NC_000002.11:g.27308094G>C , CM000664.1:g.27308094G>C | GRCh37 |
NC_000002.10:g.27161598G>C | NCBI36 |
NG_012199.1:g.3484G>C | |
NG_046849.1:g.11660G>C | |
NG_012199.2:g.3484G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380320.9:c.2642G>C MANE Select | ENSP00000369677.4:p.Arg881Pro | |
ENST00000380320.8:c.2642G>C | ENSP00000369677.4:p.Arg881Pro | |
ENST00000433140.1:c.634G>C | ||
NM_007046.3:c.2642G>C | NP_008977.1:p.Arg881Pro | |
XM_006711928.2:c.2575+218G>C | XP_006711991.1:n.2575+218G>C | |
NM_007046.4:c.2642G>C MANE Select | NP_008977.1:p.Arg881Pro |