HGVS | Genome Assembly |
---|---|
NC_000001.11:g.114713960C>G , CM000663.2:g.114713960C>G | GRCh38 |
NC_000001.10:g.115256581C>G , CM000663.1:g.115256581C>G | GRCh37 |
NC_000001.9:g.115058104C>G | NCBI36 |
NG_007572.1:g.7935G>C , LRG_92:g.7935G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000369535.5:c.130G>C MANE Select | ENSP00000358548.4:p.Val44Leu | |
ENST00000369535.4:c.130G>C | ENSP00000358548.4:p.Val44Leu | |
NM_002524.4:c.130G>C | NP_002515.1:p.Val44Leu | |
NM_002524.5:c.130G>C MANE Select | NP_002515.1:p.Val44Leu |