HGVS | Genome Assembly |
---|---|
NC_000003.12:g.172448250A>G , CM000665.2:g.172448250A>G | GRCh38 |
NC_000003.11:g.172166040A>G , CM000665.1:g.172166040A>G | GRCh37 |
NC_000003.10:g.173648734A>G | NCBI36 |
NG_021159.1:g.5207T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000241256.3:c.164T>C MANE Select | ENSP00000241256.2:p.Val55Ala | |
ENST00000241256.2:c.164T>C | ENSP00000241256.2:p.Val55Ala | |
ENST00000427970.1:c.164T>C | ENSP00000395344.1:p.Val55Ala | |
NM_004122.2:c.164T>C | NP_004113.1:p.Val55Ala | |
NM_198407.2:c.164T>C MANE Select | NP_940799.1:p.Val55Ala |