HGVS | Genome Assembly |
---|---|
NC_000019.10:g.51380631C>T , CM000681.2:g.51380631C>T | GRCh38 |
NC_000019.9:g.51883885C>T , CM000681.1:g.51883885C>T | GRCh37 |
NC_000019.8:g.56575697C>T | NCBI36 |
NG_012924.1:g.12326G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000596399.2:c.334G>A MANE Select | ENSP00000472090.2:p.Val112Ile | |
ENST00000221973.7:c.460G>A | ENSP00000221973.2:p.Val154Ile | |
ENST00000596399.1:c.334G>A | ENSP00000472090.1:p.Val112Ile | |
NM_001161748.1:c.334G>A | NP_001155220.1:p.Val112Ile | |
NM_030657.3:c.460G>A | NP_085915.2:p.Val154Ile | |
NM_001161748.2:c.334G>A MANE Select | NP_001155220.1:p.Val112Ile | |
NM_030657.4:c.460G>A | NP_085915.2:p.Val154Ile |