HGVS | Genome Assembly |
---|---|
NC_000005.10:g.1295046T>G , CM000667.2:g.1295046T>G | GRCh38 |
NC_000005.9:g.1295161T>G , CM000667.1:g.1295161T>G | GRCh37 |
NC_000005.8:g.1348161T>G | NCBI36 |
NG_009265.1:g.5002A>C , LRG_343:g.5002A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000310581.10:c.-57A>C MANE Select | ENSP00000309572.5:n.-57A>C | |
ENST00000656021.1:c.-57A>C | ENSP00000499759.1:n.-57A>C | |
ENST00000310581.9:c.-57A>C | ENSP00000309572.5:n.-57A>C | |
ENST00000522877.1:n.24A>C | ||
NM_001193376.1:c.-57A>C | NP_001180305.1:n.-57A>C | |
NM_198253.2:c.-57A>C , LRG_343t1:c.-57A>C | NP_937983.2:n.-57A>C | |
NR_149162.1:n.2A>C | ||
NR_149163.1:n.2A>C | ||
NM_001193376.2:c.-57A>C | NP_001180305.1:n.-57A>C | |
NM_198253.3:c.-57A>C MANE Select | NP_937983.2:n.-57A>C | |
NR_149162.2:n.23A>C | ||
NR_149163.2:n.23A>C | ||
NM_001193376.3:c.-57A>C | NP_001180305.1:n.-57A>C | |
NR_149162.3:n.23A>C | ||
NR_149163.3:n.23A>C |