HGVS | Genome Assembly |
---|---|
NC_000007.14:g.107779672T>C , CM000669.2:g.107779672T>C | GRCh38 |
NC_000007.13:g.107420117T>C , CM000669.1:g.107420117T>C | GRCh37 |
NC_000007.12:g.107207353T>C | NCBI36 |
NG_008046.1:g.28562A>G , LRG_683:g.28562A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000340010.10:c.1403A>G MANE Select | ENSP00000345873.5:p.Asp468Gly | |
ENST00000340010.9:c.1403A>G | ENSP00000345873.5:p.Asp468Gly | |
ENST00000379083.7:c.*1194A>G | ENSP00000368375.3:n.*1194A>G | |
NM_000111.2:c.1403A>G , LRG_683t1:c.1403A>G | NP_000102.1:p.Asp468Gly | |
XM_011515867.1:c.1403A>G | XP_011514169.1:p.Asp468Gly | |
NM_000111.3:c.1403A>G MANE Select | NP_000102.1:p.Asp468Gly |