HGVS | Genome Assembly |
---|---|
NC_000001.11:g.149927589C>G , CM000663.2:g.149927589C>G | GRCh38 |
NC_000001.10:g.149899481C>G , CM000663.1:g.149899481C>G | GRCh37 |
NC_000001.9:g.148166105C>G | NCBI36 |
NG_032777.1:g.5664G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000271628.9:c.34+137G>C MANE Select | ENSP00000271628.8:n.34+137G>C | |
ENST00000271628.8:c.34+137G>C | ENSP00000271628.8:n.34+137G>C | |
ENST00000457312.1:c.-253G>C | ENSP00000391114.1:n.-253G>C | |
NM_005850.4:c.34+137G>C | NP_005841.1:n.34+137G>C | |
NM_005850.5:c.34+137G>C MANE Select | NP_005841.1:n.34+137G>C |