HGVS | Genome Assembly |
---|---|
NC_000019.10:g.49061308T>C , CM000681.2:g.49061308T>C | GRCh38 |
NC_000019.9:g.49564565T>C , CM000681.1:g.49564565T>C | GRCh37 |
NC_000019.8:g.54256377T>C | NCBI36 |
NG_016289.1:g.7560A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000593537.2:c.*57A>G MANE Select | ENSP00000469455.1:n.*57A>G | |
ENST00000594938.2:c.*57A>G | ENSP00000512387.1:n.*57A>G | |
ENST00000595857.6:c.*57A>G | ENSP00000471508.2:n.*57A>G | |
ENST00000696088.1:c.*57A>G | ENSP00000512384.1:n.*57A>G | |
ENST00000696089.1:c.*57A>G | ENSP00000512385.1:n.*57A>G | |
ENST00000696090.1:c.*57A>G | ENSP00000512386.1:n.*57A>G | |
ENST00000696091.1:c.*57A>G | ENSP00000512388.1:n.*57A>G | |
ENST00000593537.1:c.690A>G | ENSP00000469455.1:n.690A>G | |
ENST00000599795.5:c.243+447A>G | ENSP00000470689.1:n.243+447A>G | |
NM_006179.4:c.*57A>G | NP_006170.1:n.*57A>G | |
XM_005258962.2:c.*57A>G | XP_005259019.1:n.*57A>G | |
XM_006723232.2:c.*57A>G | XP_006723295.1:n.*57A>G | |
XM_011527008.1:c.*57A>G | XP_011525310.1:n.*57A>G | |
XM_011527009.1:c.*57A>G | XP_011525311.1:n.*57A>G | |
XM_011527010.1:c.*57A>G | XP_011525312.1:n.*57A>G | |
XM_005258962.3:c.*57A>G | XP_005259019.1:n.*57A>G | |
XM_006723232.3:c.*57A>G | XP_006723295.1:n.*57A>G | |
XM_011527008.2:c.*57A>G | XP_011525310.1:n.*57A>G | |
XM_011527009.2:c.*57A>G | XP_011525311.1:n.*57A>G | |
XM_011527010.2:c.*57A>G | XP_011525312.1:n.*57A>G | |
XR_001753693.1:n.735A>G | ||
XR_001753694.1:n.735A>G | ||
NM_001395489.1:c.*57A>G | NP_001382418.1:n.*57A>G | |
NM_006179.5:c.*57A>G MANE Select | NP_006170.1:n.*57A>G |