HGVS | Genome Assembly |
---|---|
NC_000001.11:g.215674354C>A , CM000663.2:g.215674354C>A | GRCh38 |
NC_000001.10:g.215847696C>A , CM000663.1:g.215847696C>A | GRCh37 |
NC_000001.9:g.213914319C>A | NCBI36 |
NG_009497.1:g.754043G>T | |
NG_009497.2:g.754095G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000307340.8:c.13557G>T MANE Select | ENSP00000305941.3:p.Leu4519Phe | |
ENST00000674083.1:c.13557G>T | ENSP00000501296.1:p.Leu4519Phe | |
ENST00000307340.7:c.13557G>T | ENSP00000305941.3:p.Leu4519Phe | |
NM_206933.2:c.13557G>T | NP_996816.2:p.Leu4519Phe | |
NM_206933.3:c.13557G>T | NP_996816.2:p.Leu4519Phe | |
NM_206933.4:c.13557G>T MANE Select | NP_996816.3:p.Leu4519Phe |