HGVS | Genome Assembly |
---|---|
NC_000002.12:g.38071101G>A , CM000664.2:g.38071101G>A | GRCh38 |
NC_000002.11:g.38298244G>A , CM000664.1:g.38298244G>A | GRCh37 |
NC_000002.10:g.38151748G>A | NCBI36 |
NG_008386.2:g.10001C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000490576.2:c.1253C>T | ENSP00000478839.2:p.Thr418Ile | |
ENST00000610745.5:c.1253C>T MANE Select | ENSP00000478561.1:p.Thr418Ile | |
ENST00000492443.1:n.631C>T | ||
ENST00000494864.1:c.140C>T | ENSP00000479876.1:p.Thr47Ile | |
ENST00000610745.4:c.1253C>T | ENSP00000478561.1:p.Thr418Ile | |
ENST00000614273.1:c.1253C>T | ENSP00000483678.1:p.Thr418Ile | |
NM_000104.3:c.1253C>T | NP_000095.2:p.Thr418Ile | |
NM_000104.4:c.1253C>T MANE Select | NP_000095.2:p.Thr418Ile |