HGVS | Genome Assembly |
---|---|
NC_000023.11:g.47574462G>T , CM000685.2:g.47574462G>T | GRCh38 |
NC_000023.10:g.47433861G>T , CM000685.1:g.47433861G>T | GRCh37 |
NC_000023.9:g.47318805G>T | NCBI36 |
NG_008437.1:g.50396C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000295987.13:c.1522C>A MANE Select | ENSP00000295987.7:p.Leu508Ile | |
ENST00000340666.5:c.1522C>A | ENSP00000343206.4:p.Leu508Ile | |
ENST00000640721.1:c.70+226C>A | ENSP00000492857.1:n.70+226C>A | |
ENST00000295987.11:c.1522C>A | ENSP00000295987.7:p.Leu508Ile | |
ENST00000340666.4:c.1522C>A | ENSP00000343206.4:p.Leu508Ile | |
NM_006950.3:c.1522C>A MANE Select | NP_008881.2:p.Leu508Ile | |
NM_133499.2:c.1522C>A | NP_598006.1:p.Leu508Ile |