HGVS | Genome Assembly |
---|---|
NC_000021.9:g.45990559_45990560insATC , CM000683.2:g.45990559_45990560insATC | GRCh38 |
NC_000021.8:g.47410473_47410474insATC , CM000683.1:g.47410473_47410474insATC | GRCh37 |
NC_000021.7:g.46234901_46234902insATC | NCBI36 |
NG_008674.1:g.13811_13812insATC , LRG_475:g.13811_13812insATC |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000361866.8:c.1002+137_1002+138insATC MANE Select | ENSP00000355180.3:n.1002+137_1002+138insATC | |
ENST00000361866.7:c.1002+137_1002+138insATC | ENSP00000355180.3:n.1002+137_1002+138insATC | |
ENST00000612273.1:c.1002+137_1002+138insATC | ENSP00000483630.1:n.1002+137_1002+138insATC | |
NM_001848.2:c.1002+137_1002+138insATC , LRG_475t1:c.1002+137_1002+138insATC | NP_001839.2:n.1002+137_1002+138insATC | |
NM_001848.3:c.1002+137_1002+138insATC MANE Select | NP_001839.2:n.1002+137_1002+138insATC |