HGVS | Genome Assembly |
---|---|
NC_000014.9:g.50628115T>C , CM000676.2:g.50628115T>C | GRCh38 |
NC_000014.8:g.51094833T>C , CM000676.1:g.51094833T>C | GRCh37 |
NC_000014.7:g.50164583T>C | NCBI36 |
NG_009028.1:g.100034T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000553509.2:c.1204T>C | ENSP00000450989.2:p.Phe402Leu | |
ENST00000556478.3:c.1204T>C | ENSP00000501428.2:p.Phe402Leu | |
ENST00000682037.1:c.1204T>C | ENSP00000508289.1:p.Phe402Leu | |
ENST00000682219.1:n.2542T>C | ||
ENST00000683037.1:n.1125T>C | ||
ENST00000683330.1:n.1538T>C | ||
ENST00000358385.12:c.1204T>C MANE Select | ENSP00000351155.7:p.Phe402Leu | |
ENST00000674288.1:c.*2496T>C | ENSP00000501522.1:n.*2496T>C | |
ENST00000358385.10:c.1204T>C | ENSP00000351155.6:p.Phe402Leu | |
ENST00000441560.6:c.1204T>C | ENSP00000413675.2:p.Phe402Leu | |
ENST00000555266.1:c.347T>C | ENSP00000450897.1:n.347T>C | |
NM_001127713.1:c.1204T>C | NP_001121185.1:p.Phe402Leu | |
NM_015915.4:c.1204T>C | NP_056999.2:p.Phe402Leu | |
NM_181598.3:c.1204T>C | NP_853629.2:p.Phe402Leu | |
NM_015915.5:c.1204T>C MANE Select | NP_056999.2:p.Phe402Leu | |
NM_181598.4:c.1204T>C | NP_853629.2:p.Phe402Leu |