HGVS | Genome Assembly |
---|---|
NC_000002.12:g.232523820C>T , CM000664.2:g.232523820C>T | GRCh38 |
NC_000002.11:g.233388530C>T , CM000664.1:g.233388530C>T | GRCh37 |
NC_000002.10:g.233096774C>T | NCBI36 |
NG_008028.1:g.2609C>T | |
NG_031969.1:g.8358C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000617714.2:c.1061C>T MANE Select | ENSP00000479745.1:p.Pro354Leu | |
ENST00000449534.6:c.1064C>T | ENSP00000473410.1:p.Pro355Leu | |
ENST00000617714.1:c.1061C>T | ENSP00000479745.1:p.Pro354Leu | |
NM_001195129.1:c.1061C>T | NP_001182058.1:p.Pro354Leu | |
NM_001195129.2:c.1061C>T MANE Select | NP_001182058.1:p.Pro354Leu | |
NM_001369848.1:c.1064C>T | NP_001356777.1:p.Pro355Leu |