HGVS | Genome Assembly |
---|---|
NC_000019.10:g.1401523C>G , CM000681.2:g.1401523C>G | GRCh38 |
NC_000019.9:g.1401522C>G , CM000681.1:g.1401522C>G | GRCh37 |
NC_000019.8:g.1352522C>G | NCBI36 |
NG_009785.1:g.5031G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000252288.8:c.-47G>C MANE Select | ENSP00000252288.1:n.-47G>C | |
ENST00000447102.8:c.-47G>C | ENSP00000403536.2:n.-47G>C | |
ENST00000252288.6:c.-47G>C | ENSP00000252288.1:n.-47G>C | |
ENST00000447102.7:c.-47G>C | ENSP00000403536.2:n.-47G>C | |
NM_000156.5:c.-47G>C | NP_000147.1:n.-47G>C | |
NM_138924.2:c.-47G>C | NP_620279.1:n.-47G>C | |
NM_000156.6:c.-47G>C MANE Select | NP_000147.1:n.-47G>C | |
NM_138924.3:c.-47G>C | NP_620279.1:n.-47G>C |