HGVS | Genome Assembly |
---|---|
NC_000004.12:g.70642705G>A , CM000666.2:g.70642705G>A | GRCh38 |
NC_000004.11:g.71508422G>A , CM000666.1:g.71508422G>A | GRCh37 |
NC_000004.10:g.71727286G>A | NCBI36 |
NG_013024.1:g.18962G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000396073.4:c.1279G>A MANE Select | ENSP00000379383.4:p.Val427Ile | |
ENST00000396073.3:c.1279G>A | ENSP00000379383.3:p.Val427Ile | |
ENST00000472903.5:n.99+4862G>A | ||
NM_031889.2:c.1279G>A | NP_114095.2:p.Val427Ile | |
XM_006714056.2:c.1279G>A | XP_006714119.1:p.Val427Ile | |
XM_006714056.4:c.1279G>A | XP_006714119.1:p.Val427Ile | |
NM_001368133.1:c.625G>A | NP_001355062.1:p.Val209Ile | |
NM_031889.3:c.1279G>A MANE Select | NP_114095.2:p.Val427Ile |