HGVS | Genome Assembly |
---|---|
NC_000010.11:g.52771980C>T , CM000672.2:g.52771980C>T | GRCh38 |
NC_000010.10:g.54531740C>T , CM000672.1:g.54531740C>T | GRCh37 |
NC_000010.9:g.54201746C>T | NCBI36 |
NG_008196.1:g.4721G>A , LRG_154:g.4721G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000674931.1:c.-9-336G>A MANE Select | ENSP00000502789.1:n.-9-336G>A | |
ENST00000675947.1:c.-24-321G>A | ENSP00000502615.1:n.-24-321G>A | |
XM_006717861.2:c.-24-321G>A | XP_006717924.1:n.-24-321G>A | |
XM_011539816.1:c.-9-336G>A | XP_011538118.1:n.-9-336G>A | |
XM_006717861.4:c.-24-321G>A | XP_006717924.1:n.-24-321G>A | |
XM_011539816.3:c.-9-336G>A | XP_011538118.1:n.-9-336G>A | |
NM_001378373.1:c.-9-336G>A MANE Select | NP_001365302.1:n.-9-336G>A | |
NM_001378374.1:c.-24-321G>A | NP_001365303.1:n.-24-321G>A |