HGVS | Genome Assembly |
---|---|
NC_000007.14:g.21738855T>C , CM000669.2:g.21738855T>C | GRCh38 |
NC_000007.13:g.21778473T>C , CM000669.1:g.21778473T>C | GRCh37 |
NC_000007.12:g.21744998T>C | NCBI36 |
NG_012886.2:g.200641T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000409508.8:c.7800T>C MANE Select | ENSP00000475939.1:p.Asp2600= | |
ENST00000328843.10:c.7821T>C | ENSP00000330671.7:p.Asp2607= | |
ENST00000409508.7:c.7800T>C | ENSP00000475939.1:p.Asp2600= | |
ENST00000605912.1:c.360T>C | ENSP00000476068.1:p.Asp120= | |
ENST00000620169.4:c.7821T>C | ENSP00000481693.1:p.Asp2607= | |
NM_001277115.1:c.7800T>C | NP_001264044.1:p.Asp2600= | |
NM_001277115.2:c.7800T>C MANE Select | NP_001264044.1:p.Asp2600= |