HGVS | Genome Assembly |
---|---|
NC_000012.12:g.111791045T>C , CM000674.2:g.111791045T>C | GRCh38 |
NC_000012.11:g.112228849T>C , CM000674.1:g.112228849T>C | GRCh37 |
NC_000012.10:g.110713232T>C | NCBI36 |
NG_012250.1:g.29504T>C | |
NG_012250.2:g.29159T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000261733.7:c.682-261T>C MANE Select | ENSP00000261733.2:n.682-261T>C | |
ENST00000546840.3:c.672-261T>C | ||
ENST00000261733.6:c.682-261T>C | ENSP00000261733.2:n.682-261T>C | |
ENST00000416293.7:c.541-261T>C | ENSP00000403349.3:n.541-261T>C | |
ENST00000546840.2:c.667-261T>C | ENSP00000450353.3:n.667-261T>C | |
ENST00000548536.1:c.*558-261T>C | ENSP00000448179.1:n.*558-261T>C | |
NM_000690.3:c.682-261T>C | NP_000681.2:n.682-261T>C | |
NM_001204889.1:c.541-261T>C | NP_001191818.1:n.541-261T>C | |
NM_000690.4:c.682-261T>C MANE Select | NP_000681.2:n.682-261T>C | |
NM_001204889.2:c.541-261T>C | NP_001191818.1:n.541-261T>C |