HGVS | Genome Assembly |
---|---|
NC_000021.9:g.31667339C>T , CM000683.2:g.31667339C>T | GRCh38 |
NC_000021.8:g.33039652C>T , CM000683.1:g.33039652C>T | GRCh37 |
NC_000021.7:g.31961523C>T | NCBI36 |
NG_008689.1:g.12718C>T , LRG_652:g.12718C>T |
HGVS | Amino-acid change | |
---|---|---|
ENST00000270142.11:c.321C>T MANE Select | ENSP00000270142.7:p.Leu107= | |
ENST00000270142.10:c.321C>T | ENSP00000270142.6:p.Leu107= | |
ENST00000389995.4:c.264C>T | ENSP00000374645.4:p.Leu88= | |
ENST00000470944.1:n.1249C>T | ||
ENST00000476106.5:n.584C>T | ||
NM_000454.4:c.321C>T , LRG_652t1:c.321C>T | NP_000445.1:p.Leu107= | |
NM_000454.5:c.321C>T MANE Select | NP_000445.1:p.Leu107= |