HGVS | Genome Assembly |
---|---|
NC_000002.12:g.112833698A>G , CM000664.2:g.112833698A>G | GRCh38 |
NC_000002.11:g.113591275A>G , CM000664.1:g.113591275A>G | GRCh37 |
NC_000002.10:g.113307746A>G | NCBI36 |
NG_008851.1:g.8082T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000263341.7:c.100-123T>C MANE Select | ENSP00000263341.2:n.100-123T>C | |
ENST00000263341.6:c.100-123T>C | ENSP00000263341.2:n.100-123T>C | |
ENST00000416750.1:c.100-123T>C | ENSP00000400854.1:n.100-123T>C | |
ENST00000418817.5:c.100-123T>C | ENSP00000407219.1:n.100-123T>C | |
ENST00000432018.5:c.100-123T>C | ENSP00000409680.1:n.100-123T>C | |
ENST00000491056.5:n.650-123T>C | ||
ENST00000496280.5:n.187-123T>C | ||
NM_000576.2:c.100-123T>C | NP_000567.1:n.100-123T>C | |
XM_006712496.1:c.-392-123T>C | XP_006712559.1:n.-392-123T>C | |
XM_017003988.2:c.7-123T>C | XP_016859477.1:n.7-123T>C | |
NM_000576.3:c.100-123T>C MANE Select | NP_000567.1:n.100-123T>C |