HGVS | Genome Assembly |
---|---|
NC_000007.14:g.88276856T>C , CM000669.2:g.88276856T>C | GRCh38 |
NC_000007.13:g.87906171T>C , CM000669.1:g.87906171T>C | GRCh37 |
NC_000007.12:g.87744107T>C | NCBI36 |
NG_028313.1:g.35058A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000380079.9:c.*2542A>G MANE Select | ENSP00000369419.4:n.*2542A>G | |
ENST00000380079.8:c.*2542A>G | ENSP00000369419.4:n.*2542A>G | |
NM_001205315.1:c.*2542A>G | NP_001192244.1:n.*2542A>G | |
NM_001205316.1:c.*2542A>G | NP_001192245.1:n.*2542A>G | |
NM_024636.3:c.*2542A>G | NP_078912.2:n.*2542A>G | |
NM_001205315.2:c.*2542A>G | NP_001192244.1:n.*2542A>G | |
NM_001205316.2:c.*2542A>G | NP_001192245.1:n.*2542A>G | |
NM_024636.4:c.*2542A>G MANE Select | NP_078912.2:n.*2542A>G |