HGVS | Genome Assembly |
---|---|
NC_000003.12:g.172448312C>G , CM000665.2:g.172448312C>G | GRCh38 |
NC_000003.11:g.172166102C>G , CM000665.1:g.172166102C>G | GRCh37 |
NC_000003.10:g.173648796C>G | NCBI36 |
NG_021159.1:g.5145G>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000241256.3:c.102G>C MANE Select | ENSP00000241256.2:p.Leu34= | |
ENST00000241256.2:c.102G>C | ENSP00000241256.2:p.Leu34= | |
ENST00000427970.1:c.102G>C | ENSP00000395344.1:p.Leu34= | |
NM_004122.2:c.102G>C | NP_004113.1:p.Leu34= | |
NM_198407.2:c.102G>C MANE Select | NP_940799.1:p.Leu34= |