HGVS | Genome Assembly |
---|---|
NC_000006.12:g.35500060A>C , CM000668.2:g.35500060A>C | GRCh38 |
NC_000006.11:g.35467837A>C , CM000668.1:g.35467837A>C | GRCh37 |
NC_000006.10:g.35575815A>C | NCBI36 |
NG_009077.1:g.17811T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000229771.11:c.1416T>G MANE Select | ENSP00000229771.6:p.Ser472Arg | |
ENST00000229771.10:c.1416T>G | ENSP00000229771.6:p.Ser472Arg | |
ENST00000322263.8:c.1257T>G | ENSP00000319414.4:p.Ser419Arg | |
ENST00000614066.4:c.1410T>G | ENSP00000477534.1:p.Ser470Arg | |
NM_001289395.1:c.1257T>G | NP_001276324.1:p.Ser419Arg | |
NM_003322.4:c.1416T>G | NP_003313.3:p.Ser472Arg | |
NM_003322.5:c.1416T>G | NP_003313.3:p.Ser472Arg | |
NM_003322.6:c.1416T>G MANE Select | NP_003313.3:p.Ser472Arg | |
NM_001289395.2:c.1257T>G | NP_001276324.1:p.Ser419Arg |