HGVS | Genome Assembly |
---|---|
NC_000010.11:g.52771989T>C , CM000672.2:g.52771989T>C | GRCh38 |
NC_000010.10:g.54531749T>C , CM000672.1:g.54531749T>C | GRCh37 |
NC_000010.9:g.54201755T>C | NCBI36 |
NG_008196.1:g.4712A>G , LRG_154:g.4712A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674931.1:c.-9-345A>G MANE Select | ENSP00000502789.1:n.-9-345A>G | |
ENST00000675947.1:c.-24-330A>G | ENSP00000502615.1:n.-24-330A>G | |
XM_006717861.2:c.-24-330A>G | XP_006717924.1:n.-24-330A>G | |
XM_011539816.1:c.-9-345A>G | XP_011538118.1:n.-9-345A>G | |
XM_006717861.4:c.-24-330A>G | XP_006717924.1:n.-24-330A>G | |
XM_011539816.3:c.-9-345A>G | XP_011538118.1:n.-9-345A>G | |
NM_001378373.1:c.-9-345A>G MANE Select | NP_001365302.1:n.-9-345A>G | |
NM_001378374.1:c.-24-330A>G | NP_001365303.1:n.-24-330A>G |