HGVS | Genome Assembly |
---|---|
NC_000009.12:g.33025505G>C , CM000671.2:g.33025505G>C | GRCh38 |
NC_000009.11:g.33025503G>C , CM000671.1:g.33025503G>C | GRCh37 |
NC_000009.10:g.33015503G>C | NCBI36 |
NG_012821.2:g.4627C>G |
HGVS | Amino-acid change | |
---|---|---|
ENST00000330899.5:c.-11+122G>C MANE Select | ENSP00000369127.3:n.-11+122G>C | |
ENST00000330899.4:c.-11+122G>C | ENSP00000369127.3:n.-11+122G>C | |
ENST00000495015.5:n.98+122G>C | ||
NM_001314039.1:c.-304+122G>C | NP_001300968.1:n.-304+122G>C | |
NM_001539.2:c.-11+122G>C | NP_001530.1:n.-11+122G>C | |
NM_001539.3:c.-11+122G>C | NP_001530.1:n.-11+122G>C | |
NM_001539.4:c.-11+122G>C MANE Select | NP_001530.1:n.-11+122G>C | |
NM_001314039.2:c.-304+122G>C | NP_001300968.1:n.-304+122G>C |