HGVS | Genome Assembly |
---|---|
NC_000004.12:g.177439674A>G , CM000666.2:g.177439674A>G | GRCh38 |
NC_000004.11:g.178360828A>G , CM000666.1:g.178360828A>G | GRCh37 |
NC_000004.10:g.178597822A>G | NCBI36 |
NG_011845.2:g.7830T>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264595.7:c.296T>C MANE Select | ENSP00000264595.2:p.Val99Ala | |
ENST00000264595.6:c.296T>C | ENSP00000264595.2:p.Val99Ala | |
ENST00000506853.5:n.330T>C | ||
ENST00000510955.5:n.315+599T>C | ||
NM_000027.3:c.296T>C | NP_000018.2:p.Val99Ala | |
NM_001171988.1:c.296T>C | NP_001165459.1:p.Val99Ala | |
NR_033655.1:n.424T>C | ||
XM_006714123.2:c.296T>C | XP_006714186.1:p.Val99Ala | |
XR_001741155.2:n.390T>C | ||
NM_000027.4:c.296T>C MANE Select | NP_000018.2:p.Val99Ala | |
NM_001171988.2:c.296T>C | NP_001165459.1:p.Val99Ala | |
NR_033655.2:n.358T>C |