HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49061294G>T , CM000681.2:g.49061294G>T | GRCh38 |
NC_000019.9:g.49564551G>T , CM000681.1:g.49564551G>T | GRCh37 |
NC_000019.8:g.54256363G>T | NCBI36 |
NG_016289.1:g.7574C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000593537.2:c.*71C>A MANE Select | ENSP00000469455.1:n.*71C>A | |
ENST00000594938.2:c.*71C>A | ENSP00000512387.1:n.*71C>A | |
ENST00000595857.6:c.*71C>A | ENSP00000471508.2:n.*71C>A | |
ENST00000696088.1:c.*71C>A | ENSP00000512384.1:n.*71C>A | |
ENST00000696089.1:c.*71C>A | ENSP00000512385.1:n.*71C>A | |
ENST00000696090.1:c.*71C>A | ENSP00000512386.1:n.*71C>A | |
ENST00000696091.1:c.*71C>A | ENSP00000512388.1:n.*71C>A | |
ENST00000593537.1:c.704C>A | ENSP00000469455.1:n.704C>A | |
ENST00000599795.5:c.243+461C>A | ENSP00000470689.1:n.243+461C>A | |
NM_006179.4:c.*71C>A | NP_006170.1:n.*71C>A | |
XM_005258962.2:c.*71C>A | XP_005259019.1:n.*71C>A | |
XM_006723232.2:c.*71C>A | XP_006723295.1:n.*71C>A | |
XM_011527008.1:c.*71C>A | XP_011525310.1:n.*71C>A | |
XM_011527009.1:c.*71C>A | XP_011525311.1:n.*71C>A | |
XM_011527010.1:c.*71C>A | XP_011525312.1:n.*71C>A | |
XM_005258962.3:c.*71C>A | XP_005259019.1:n.*71C>A | |
XM_006723232.3:c.*71C>A | XP_006723295.1:n.*71C>A | |
XM_011527008.2:c.*71C>A | XP_011525310.1:n.*71C>A | |
XM_011527009.2:c.*71C>A | XP_011525311.1:n.*71C>A | |
XM_011527010.2:c.*71C>A | XP_011525312.1:n.*71C>A | |
XR_001753693.1:n.749C>A | ||
XR_001753694.1:n.749C>A | ||
NM_001395489.1:c.*71C>A | NP_001382418.1:n.*71C>A | |
NM_006179.5:c.*71C>A MANE Select | NP_006170.1:n.*71C>A |