HGVS | Genome Assembly |
---|---|
NC_000017.11:g.40867088C>T , CM000679.2:g.40867088C>T | GRCh38 |
NC_000017.10:g.39023340C>T , CM000679.1:g.39023340C>T | GRCh37 |
NC_000017.9:g.36276866C>T | NCBI36 |
NG_008077.1:g.5123G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000251643.5:c.99G>A MANE Select | ENSP00000251643.4:p.Met33Ile | |
ENST00000647902.1:c.99G>A | ENSP00000497770.1:p.Met33Ile | |
ENST00000251643.4:c.99G>A | ENSP00000251643.4:p.Met33Ile | |
NM_000223.3:c.99G>A | NP_000214.1:p.Met33Ile | |
XR_934754.1:n.1500+16228C>T | ||
XR_934754.2:n.2008+16228C>T | ||
NM_000223.4:c.99G>A MANE Select | NP_000214.1:p.Met33Ile |