HGVS | Genome Assembly |
---|---|
NC_000005.10:g.218360C>T , CM000667.2:g.218360C>T | GRCh38 |
NC_000005.9:g.218475C>T , CM000667.1:g.218475C>T | GRCh37 |
NC_000005.8:g.271475C>T | NCBI36 |
NG_012339.1:g.5120C>T | |
NG_033064.1:g.4823G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000264932.11:c.5C>T MANE Select | ENSP00000264932.6:p.Ser2Leu | |
ENST00000651543.1:c.5C>T | ENSP00000499215.1:p.Ser2Leu | |
ENST00000264932.10:c.5C>T | ENSP00000264932.6:p.Ser2Leu | |
ENST00000502379.5:n.50C>T | ||
ENST00000504309.5:c.5C>T | ENSP00000426514.1:p.Ser2Leu | |
ENST00000505555.5:n.45C>T | ||
ENST00000509632.5:c.5C>T | ENSP00000425077.1:p.Ser2Leu | |
ENST00000510361.5:c.5C>T | ENSP00000427703.1:p.Ser2Leu | |
ENST00000617470.4:c.5C>T | ENSP00000484230.1:p.Ser2Leu | |
NM_001294332.1:c.5C>T | NP_001281261.1:p.Ser2Leu | |
NM_004168.3:c.5C>T | NP_004159.2:p.Ser2Leu | |
XM_005248331.2:c.5C>T | XP_005248388.1:p.Ser2Leu | |
XM_011514072.1:c.5C>T | XP_011512374.1:p.Ser2Leu | |
XM_011514073.1:c.5C>T | XP_011512375.1:p.Ser2Leu | |
XR_925638.1:n.138C>T | ||
NM_001330758.1:c.5C>T | NP_001317687.1:p.Ser2Leu | |
XM_011514072.2:c.5C>T | XP_011512374.1:p.Ser2Leu | |
XM_011514073.2:c.5C>T | XP_011512375.1:p.Ser2Leu | |
XM_017009685.2:c.5C>T | XP_016865174.1:p.Ser2Leu | |
XM_024446143.1:c.5C>T | XP_024301911.1:p.Ser2Leu | |
XR_002956167.1:n.52C>T | ||
NM_004168.4:c.5C>T MANE Select | NP_004159.2:p.Ser2Leu | |
NM_001294332.2:c.5C>T | NP_001281261.1:p.Ser2Leu | |
NM_001330758.2:c.5C>T | NP_001317687.1:p.Ser2Leu |