HGVS | Genome Assembly |
---|---|
NC_000007.14:g.94422745T>C , CM000669.2:g.94422745T>C | GRCh38 |
NC_000007.13:g.94052057T>C , CM000669.1:g.94052057T>C | GRCh37 |
NC_000007.12:g.93889993T>C | NCBI36 |
NG_007405.1:g.33185T>C , LRG_2:g.33185T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000297268.11:c.2404-212T>C MANE Select | ENSP00000297268.6:n.2404-212T>C | |
ENST00000297268.10:c.2404-212T>C | ENSP00000297268.6:n.2404-212T>C | |
ENST00000481570.5:n.275T>C | ||
ENST00000497316.5:n.801-212T>C | ||
ENST00000620463.1:c.2398-212T>C | ENSP00000477719.1:n.2398-212T>C | |
NM_000089.3:c.2404-212T>C , LRG_2t1:c.2404-212T>C | NP_000080.2:n.2404-212T>C | |
NM_000089.4:c.2404-212T>C MANE Select | NP_000080.2:n.2404-212T>C |