HGVS | Genome Assembly |
---|---|
NC_000022.11:g.17085009T>C , CM000684.2:g.17085009T>C | GRCh38 |
NC_000022.10:g.17565899T>C , CM000684.1:g.17565899T>C | GRCh37 |
NC_000022.9:g.15945899T>C | NCBI36 |
NG_028257.1:g.5049T>C , LRG_355:g.5049T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000694948.1:n.16T>C | ||
ENST00000694949.1:n.13T>C | ||
ENST00000319363.11:c.-83T>C MANE Select | ENSP00000320936.6:n.-83T>C | |
ENST00000319363.10:c.-83T>C | ENSP00000320936.6:n.-83T>C | |
ENST00000477874.1:n.56T>C | ||
ENST00000612619.1:c.-83T>C | ENSP00000479970.1:n.-83T>C | |
NM_001289905.1:c.-83T>C | NP_001276834.1:n.-83T>C | |
NM_014339.6:c.-83T>C , LRG_355t1:c.-83T>C | NP_055154.3:n.-83T>C | |
NM_014339.7:c.-83T>C MANE Select | NP_055154.3:n.-83T>C | |
NM_001289905.2:c.-83T>C | NP_001276834.1:n.-83T>C |