HGVS | Genome Assembly |
---|---|
NC_000008.11:g.42838844A>G , CM000670.2:g.42838844A>G | GRCh38 |
NC_000008.10:g.42693987A>G , CM000670.1:g.42693987A>G | GRCh37 |
NC_000008.9:g.42813144A>G | NCBI36 |
NG_011837.1:g.9488T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000254250.7:c.267+342T>C MANE Select | ENSP00000254250.3:n.267+342T>C | |
ENST00000345117.2:c.72-508T>C | ENSP00000344966.2:n.72-508T>C | |
ENST00000529779.1:c.267+342T>C | ENSP00000433912.1:n.267+342T>C | |
NM_018105.2:c.267+342T>C | NP_060575.1:n.267+342T>C | |
NM_199003.1:c.72-508T>C | NP_945354.1:n.72-508T>C | |
NM_018105.3:c.267+342T>C MANE Select | NP_060575.1:n.267+342T>C | |
NM_199003.2:c.72-508T>C | NP_945354.1:n.72-508T>C |