HGVS | Genome Assembly |
---|---|
NC_000009.12:g.32550831C>G , CM000671.2:g.32550831C>G | GRCh38 |
NC_000009.11:g.32550829C>G , CM000671.1:g.32550829C>G | GRCh37 |
NC_000009.10:g.32540829C>G | NCBI36 |
NG_017050.1:g.6794G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000360538.7:c.141G>C MANE Select | ENSP00000353735.2:p.Leu47= | |
ENST00000680198.1:c.141G>C | ENSP00000505143.1:p.Leu47= | |
ENST00000681750.1:c.-102G>C | ENSP00000506413.1:n.-102G>C | |
ENST00000360538.6:c.141G>C | ENSP00000353735.2:p.Leu47= | |
ENST00000379858.1:c.3+1603G>C | ENSP00000369187.1:n.3+1603G>C | |
NM_001195622.1:c.3+1603G>C | NP_001182551.1:n.3+1603G>C | |
NM_005802.4:c.141G>C | NP_005793.2:p.Leu47= | |
NM_005802.5:c.141G>C MANE Select | NP_005793.2:p.Leu47= | |
NM_001195622.2:c.3+1603G>C | NP_001182551.1:n.3+1603G>C |