HGVS | Genome Assembly |
---|---|
NC_000017.11:g.73196637T>G , CM000679.2:g.73196637T>G | GRCh38 |
NC_000017.10:g.71192776T>G , CM000679.1:g.71192776T>G | GRCh37 |
NC_000017.9:g.68704371T>G | NCBI36 |
NG_008971.1:g.8604T>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000299886.9:c.446T>G MANE Select | ENSP00000299886.4:p.Leu149Arg | |
ENST00000299886.8:c.446T>G | ENSP00000299886.4:p.Leu149Arg | |
ENST00000438720.7:c.444T>G | ||
ENST00000582587.2:c.443T>G | ||
ENST00000618996.4:c.446T>G | ENSP00000479450.1:p.Leu149Arg | |
NM_018714.2:c.446T>G | NP_061184.1:p.Leu149Arg | |
NM_018714.3:c.446T>G MANE Select | NP_061184.1:p.Leu149Arg |