HGVS | Genome Assembly |
---|---|
NC_000008.11:g.98158195C= , CM000670.2:g.98158195C= | GRCh38 |
NC_000008.10:g.99170423C= , CM000670.1:g.99170423C= | GRCh37 |
NC_000008.9:g.99239599C= | NCBI36 |
NG_052869.1:g.45903C= |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000401707.7:c.2999C= MANE Select | ENSP00000385787.2:p.Ala1000= | |
ENST00000349693.3:c.2999C= | ENSP00000339529.3:p.Ala1000= | |
ENST00000401707.6:c.2999C= | ENSP00000385787.2:p.Ala1000= | |
NM_001145860.1:c.2999C= | NP_001139332.1:p.Ala1000= | |
NM_001145861.1:c.2999C= | NP_001139333.1:p.Ala1000= | |
NM_015029.2:c.2999C= | NP_055844.2:p.Ala1000= | |
NM_001145860.2:c.2999C= MANE Select | NP_001139332.1:p.Ala1000= | |
NM_001145861.2:c.2999C= | NP_001139333.1:p.Ala1000= | |
NM_015029.3:c.2999C= | NP_055844.2:p.Ala1000= |