HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48750944A>G , CM000681.2:g.48750944A>G | GRCh38 |
NC_000019.9:g.49254201A>G , CM000681.1:g.49254201A>G | GRCh37 |
NC_000019.8:g.53946013A>G | NCBI36 |
NG_007510.1:g.9447T>C | |
NG_007510.2:g.9447T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645652.2:c.338T>C MANE Select | ENSP00000494643.1:p.Leu113Pro | |
ENST00000310160.7:c.338T>C | ENSP00000312021.3:p.Leu113Pro | |
NM_000148.3:c.338T>C | NP_000139.1:p.Leu113Pro | |
XM_006723127.1:c.707T>C | XP_006723190.1:p.Leu236Pro | |
NM_001329877.1:c.338T>C | NP_001316806.1:p.Leu113Pro | |
NM_000148.4:c.338T>C | NP_000139.1:p.Leu113Pro | |
NM_001384359.1:c.338T>C MANE Select | NP_001371288.1:p.Leu113Pro |