HGVS | Genome Assembly |
---|---|
NC_000007.14:g.44062725G>C , CM000669.2:g.44062725G>C | GRCh38 |
NC_000007.13:g.44102324G>C , CM000669.1:g.44102324G>C | GRCh37 |
NC_000007.12:g.44068849G>C | NCBI36 |
NG_013016.1:g.7863C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000448521.6:c.*1809G>C MANE Select | ENSP00000411701.1:n.*1809G>C | |
ENST00000432854.5:c.2887G>C | ||
NM_001014436.3:c.*1809G>C MANE Select | NP_001014436.1:n.*1809G>C | |
NM_001122956.2:c.*1809G>C | NP_001116428.1:n.*1809G>C | |
NM_001284313.2:c.*1809G>C | NP_001271242.1:n.*1809G>C | |
NM_001362723.2:c.*1809G>C | NP_001349652.1:n.*1809G>C | |
NM_014063.7:c.*1809G>C | NP_054782.2:n.*1809G>C | |
NM_001284315.2:c.*1809G>C | NP_001271244.1:n.*1809G>C |