HGVS | Genome Assembly |
---|---|
NC_000019.10:g.33302124G>C , CM000681.2:g.33302124G>C | GRCh38 |
NC_000019.9:g.33793030G>C , CM000681.1:g.33793030G>C | GRCh37 |
NC_000019.8:g.38484870G>C | NCBI36 |
NG_012022.1:g.5401C>G , LRG_456:g.5401C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000498907.3:c.291C>G MANE Select | ENSP00000427514.1:p.Pro97= | |
ENST00000498907.2:c.291C>G | ENSP00000427514.1:p.Pro97= | |
NM_001285829.1:c.-67C>G | NP_001272758.1:n.-67C>G | |
NM_001287424.1:c.396C>G | NP_001274353.1:p.Pro132= | |
NM_001287435.1:c.249C>G | NP_001274364.1:p.Pro83= | |
NM_004364.4:c.291C>G | NP_004355.2:p.Pro97= | |
NM_001287424.2:c.396C>G | NP_001274353.1:p.Pro132= | |
NM_004364.5:c.291C>G MANE Select | NP_004355.2:p.Pro97= | |
NM_001285829.2:c.-67C>G | NP_001272758.1:n.-67C>G | |
NM_001287435.2:c.249C>G | NP_001274364.1:p.Pro83= |