HGVS | Genome Assembly |
---|---|
NC_000011.10:g.67586463G>C , CM000673.2:g.67586463G>C | GRCh38 |
NC_000011.9:g.67353934G>C , CM000673.1:g.67353934G>C | GRCh37 |
NC_000011.8:g.67110510G>C | NCBI36 |
NG_012075.1:g.7869G>C , LRG_723:g.7869G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398603.6:c.411G>C | ENSP00000381604.1:p.Ala137= | |
ENST00000398606.10:c.519G>C MANE Select | ENSP00000381607.3:p.Ala173= | |
ENST00000646888.1:c.*235G>C | ENSP00000494477.1:n.*235G>C | |
ENST00000398603.5:c.411G>C | ENSP00000381604.1:p.Ala137= | |
ENST00000398606.7:c.519G>C | ENSP00000381607.3:p.Ala173= | |
ENST00000467591.1:n.630G>C | ||
ENST00000494593.1:n.1491G>C | ||
ENST00000498765.5:c.582G>C | ||
NM_000852.3:c.519G>C , LRG_723t1:c.519G>C | NP_000843.1:p.Ala173= | |
NM_000852.4:c.519G>C MANE Select | NP_000843.1:p.Ala173= |