HGVS | Genome Assembly |
---|---|
NC_000007.14:g.93101517C>G , CM000669.2:g.93101517C>G | GRCh38 |
NC_000007.13:g.92730830C>G , CM000669.1:g.92730830C>G | GRCh37 |
NC_000007.12:g.92568766C>G | NCBI36 |
NG_023419.1:g.21507G>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000379958.3:c.4581G>C MANE Select | ENSP00000369292.2:p.Leu1527Phe | |
ENST00000379958.2:c.4581G>C | ENSP00000369292.2:p.Leu1527Phe | |
ENST00000620985.4:c.4581G>C | ENSP00000484636.1:p.Leu1527Phe | |
NM_001193307.1:c.4581G>C | NP_001180236.1:p.Leu1527Phe | |
NM_017654.3:c.4581G>C | NP_060124.2:p.Leu1527Phe | |
NM_017654.4:c.4581G>C MANE Select | NP_060124.2:p.Leu1527Phe | |
NM_001193307.2:c.4581G>C | NP_001180236.1:p.Leu1527Phe |