HGVS | Genome Assembly |
---|---|
NC_000011.10:g.61392667T>C , CM000673.2:g.61392667T>C | GRCh38 |
NC_000011.9:g.61160139T>C , CM000673.1:g.61160139T>C | GRCh37 |
NC_000011.8:g.60916715T>C | NCBI36 |
NG_032976.1:g.5308T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000334888.10:c.34+2T>C | ENSP00000334844.5:n.34+2T>C | |
ENST00000544795.6:n.81T>C | ||
ENST00000684926.1:n.38T>C | ||
ENST00000688959.1:c.-238T>C | ENSP00000509213.1:n.-238T>C | |
ENST00000690736.1:c.34+2T>C | ENSP00000508542.1:n.34+2T>C | |
ENST00000515837.7:c.34+2T>C MANE Select | ENSP00000440638.1:n.34+2T>C | |
ENST00000334888.9:c.34+2T>C | ENSP00000334844.5:n.34+2T>C | |
ENST00000398979.7:c.-162T>C | ENSP00000381950.3:n.-162T>C | |
ENST00000515837.6:c.34+2T>C | ENSP00000440638.1:n.34+2T>C | |
ENST00000541473.1:n.36T>C | ||
ENST00000544795.5:n.38T>C | ||
NM_001173990.2:c.34+2T>C | NP_001167461.1:n.34+2T>C | |
NM_001173991.2:c.34+2T>C | NP_001167462.1:n.34+2T>C | |
NM_016499.5:c.-162T>C | NP_057583.2:n.-162T>C | |
XM_005274039.3:c.-296T>C | XP_005274096.1:n.-296T>C | |
NM_001330285.1:c.-162T>C | NP_001317214.1:n.-162T>C | |
XM_005274039.4:c.-296T>C | XP_005274096.1:n.-296T>C | |
NM_001173990.3:c.34+2T>C MANE Select | NP_001167461.1:n.34+2T>C | |
NM_001173991.3:c.34+2T>C | NP_001167462.1:n.34+2T>C | |
NM_001330285.2:c.-162T>C | NP_001317214.1:n.-162T>C | |
NM_016499.6:c.-162T>C | NP_057583.2:n.-162T>C |