HGVS | Genome Assembly |
---|---|
NC_000011.10:g.60470665T>C , CM000673.2:g.60470665T>C | GRCh38 |
NC_000011.9:g.60238138T>C , CM000673.1:g.60238138T>C | GRCh37 |
NC_000011.8:g.59994714T>C | NCBI36 |
NG_023388.1:g.19857T>C , LRG_140:g.19857T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000345732.9:c.*2197T>C MANE Select | ENSP00000314620.7:n.*2197T>C | |
ENST00000534668.6:c.*2197T>C | ENSP00000433277.1:n.*2197T>C | |
ENST00000345732.8:c.*2197T>C | ENSP00000314620.7:n.*2197T>C | |
ENST00000389939.2:c.*2197T>C | ENSP00000374589.2:n.*2197T>C | |
ENST00000534668.5:c.*2197T>C | ENSP00000433277.1:n.*2197T>C | |
NM_021950.3:c.*2197T>C | NP_068769.2:n.*2197T>C | |
NM_152866.2:c.*2197T>C , LRG_140t1:c.*2197T>C | NP_690605.1:n.*2197T>C | |
NM_152866.3:c.*2197T>C MANE Select | NP_690605.1:n.*2197T>C | |
NM_152867.2:c.*2197T>C | NP_690606.1:n.*2197T>C | |
NM_021950.4:c.*2197T>C | NP_068769.2:n.*2197T>C |