HGVS | Genome Assembly |
---|---|
NC_000007.14:g.154669402A>G , CM000669.2:g.154669402A>G | GRCh38 |
NC_000007.13:g.154461112A>G , CM000669.1:g.154461112A>G | GRCh37 |
NC_000007.12:g.154092045A>G | NCBI36 |
NG_033878.1:g.787069A>G | |
NG_033878.2:g.926417A>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000706130.1:c.540A>G | ENSP00000516215.1:p.Lys180= | |
ENST00000706151.1:c.-253A>G | ENSP00000516234.1:n.-253A>G | |
ENST00000706153.1:n.369A>G | ||
ENST00000377770.8:c.723A>G MANE Select | ENSP00000367001.3:p.Lys241= | |
ENST00000332007.7:c.537A>G | ENSP00000328226.3:p.Lys179= | |
ENST00000377770.7:c.723A>G | ENSP00000367001.3:p.Lys241= | |
ENST00000404039.5:c.531A>G | ENSP00000385578.1:p.Lys177= | |
ENST00000427557.1:c.442-58365A>G | ENSP00000397303.1:n.442-58365A>G | |
NM_001039350.2:c.531A>G | NP_001034439.1:p.Lys177= | |
NM_001290252.1:c.442-58365A>G | NP_001277181.1:n.442-58365A>G | |
NM_001936.4:c.537A>G | NP_001927.3:p.Lys179= | |
NM_130797.3:c.723A>G | NP_570629.2:p.Lys241= | |
XM_011515865.1:c.531A>G | XP_011514167.1:p.Lys177= | |
XM_011515866.1:c.99A>G | XP_011514168.1:p.Lys33= | |
NM_001364497.1:c.540A>G | NP_001351426.1:p.Lys180= | |
NM_001364498.1:c.540A>G | NP_001351427.1:p.Lys180= | |
NM_001364499.1:c.540A>G | NP_001351428.1:p.Lys180= | |
NM_001364500.1:c.540A>G | NP_001351429.1:p.Lys180= | |
NM_001364501.1:c.531A>G | NP_001351430.1:p.Lys177= | |
NR_157195.1:n.1173A>G | ||
NR_157196.1:n.873A>G | ||
XM_017011812.2:c.99A>G | XP_016867301.1:p.Lys33= | |
NM_130797.4:c.723A>G MANE Select | NP_570629.2:p.Lys241= | |
NM_001039350.3:c.531A>G | NP_001034439.1:p.Lys177= | |
NM_001290252.2:c.442-58365A>G | NP_001277181.1:n.442-58365A>G | |
NM_001364497.2:c.540A>G | NP_001351426.1:p.Lys180= | |
NM_001364498.2:c.540A>G | NP_001351427.1:p.Lys180= | |
NM_001364499.2:c.540A>G | NP_001351428.1:p.Lys180= | |
NM_001364500.2:c.540A>G | NP_001351429.1:p.Lys180= | |
NM_001936.5:c.537A>G | NP_001927.3:p.Lys179= | |
NR_157196.2:n.873A>G | ||
NM_001364501.2:c.531A>G | NP_001351430.1:p.Lys177= | |
NR_157195.2:n.1173A>G |