HGVS | Genome Assembly |
---|---|
NC_000007.14:g.128837500G>T , CM000669.2:g.128837500G>T | GRCh38 |
NC_000007.13:g.128477554G>T , CM000669.1:g.128477554G>T | GRCh37 |
NC_000007.12:g.128264790G>T | NCBI36 |
NG_011807.1:g.12072G>T , LRG_870:g.12072G>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000325888.13:c.802G>T MANE Select | ENSP00000327145.8:p.Val268Phe | |
ENST00000325888.12:c.802G>T | ENSP00000327145.8:p.Val268Phe | |
ENST00000346177.6:c.802G>T | ENSP00000344002.6:p.Val268Phe | |
NM_001127487.1:c.802G>T | NP_001120959.1:p.Val268Phe | |
NM_001458.4:c.802G>T , LRG_870t1:c.802G>T | NP_001449.3:p.Val268Phe | |
NM_001127487.2:c.802G>T | NP_001120959.1:p.Val268Phe | |
NM_001458.5:c.802G>T MANE Select | NP_001449.3:p.Val268Phe |