HGVS | Genome Assembly |
---|---|
NC_000003.12:g.172448326G>C , CM000665.2:g.172448326G>C | GRCh38 |
NC_000003.11:g.172166116G>C , CM000665.1:g.172166116G>C | GRCh37 |
NC_000003.10:g.173648810G>C | NCBI36 |
NG_021159.1:g.5131C>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000241256.3:c.88C>G MANE Select | ENSP00000241256.2:p.Leu30Val | |
ENST00000241256.2:c.88C>G | ENSP00000241256.2:p.Leu30Val | |
ENST00000427970.1:c.88C>G | ENSP00000395344.1:p.Leu30Val | |
NM_004122.2:c.88C>G | NP_004113.1:p.Leu30Val | |
NM_198407.2:c.88C>G MANE Select | NP_940799.1:p.Leu30Val |