HGVS | Genome Assembly |
---|---|
NC_000019.10:g.48750936T>A , CM000681.2:g.48750936T>A | GRCh38 |
NC_000019.9:g.49254193T>A , CM000681.1:g.49254193T>A | GRCh37 |
NC_000019.8:g.53946005T>A | NCBI36 |
NG_007510.1:g.9455A>T | |
NG_007510.2:g.9455A>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000645652.2:c.346A>T MANE Select | ENSP00000494643.1:p.Met116Leu | |
ENST00000310160.7:c.346A>T | ENSP00000312021.3:p.Met116Leu | |
NM_000148.3:c.346A>T | NP_000139.1:p.Met116Leu | |
XM_006723127.1:c.715A>T | XP_006723190.1:p.Met239Leu | |
NM_001329877.1:c.346A>T | NP_001316806.1:p.Met116Leu | |
NM_000148.4:c.346A>T | NP_000139.1:p.Met116Leu | |
NM_001384359.1:c.346A>T MANE Select | NP_001371288.1:p.Met116Leu |