HGVS | Genome Assembly |
---|---|
NC_000013.11:g.42581032G>C , CM000675.2:g.42581032G>C | GRCh38 |
NC_000013.10:g.43155168G>C , CM000675.1:g.43155168G>C | GRCh37 |
NC_000013.9:g.42053168G>C | NCBI36 |
NG_008990.1:g.23297G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000398795.7:c.220-94G>C MANE Select | ENSP00000381775.3:n.220-94G>C | |
ENST00000239849.8:c.79-94G>C | ENSP00000239849.7:n.79-94G>C | |
ENST00000358545.6:c.1-94G>C | ENSP00000351347.2:n.1-94G>C | |
ENST00000398795.6:c.220-94G>C | ENSP00000381775.3:n.220-94G>C | |
ENST00000405262.6:c.1-94G>C | ENSP00000384042.2:n.1-94G>C | |
ENST00000544862.5:c.1-94G>C | ENSP00000444913.1:n.1-94G>C | |
NM_003701.3:c.220-94G>C | NP_003692.1:n.220-94G>C | |
NM_033012.3:c.1-94G>C | NP_143026.1:n.1-94G>C | |
XM_011535280.1:c.1-94G>C | XP_011533582.1:n.1-94G>C | |
XM_011535280.2:c.1-94G>C | XP_011533582.1:n.1-94G>C | |
XM_017020802.1:c.58-94G>C | XP_016876291.1:n.58-94G>C | |
XM_017020803.2:c.1-94G>C | XP_016876292.1:n.1-94G>C | |
NM_003701.4:c.220-94G>C MANE Select | NP_003692.1:n.220-94G>C | |
NM_033012.4:c.1-94G>C | NP_143026.1:n.1-94G>C |