HGVS | Genome Assembly |
---|---|
NC_000016.10:g.16202100T>G , CM000678.2:g.16202100T>G | GRCh38 |
NC_000016.9:g.16295957T>G , CM000678.1:g.16295957T>G | GRCh37 |
NC_000016.8:g.16203458T>G | NCBI36 |
NG_007558.2:g.26372A>C | |
NG_007558.3:g.26518A>C |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000574094.6:c.1077A>C | ENSP00000507301.1:p.Ser359= | |
ENST00000622290.5:c.1077A>C | ENSP00000483331.2:p.Ser359= | |
ENST00000205557.12:c.1077A>C MANE Select | ENSP00000205557.7:p.Ser359= | |
ENST00000205557.11:c.1077A>C | ENSP00000205557.7:p.Ser359= | |
ENST00000456970.6:c.1077A>C | ENSP00000405002.2:p.Ser359= | |
ENST00000574094.5:n.1173A>C | ||
ENST00000577103.1:c.*944A>C | ENSP00000459243.1:n.*944A>C | |
ENST00000622290.4:c.1077A>C | ENSP00000483331.1:p.Ser359= | |
NM_001171.5:c.1077A>C | NP_001162.4:p.Ser359= | |
XM_011522479.1:c.1077A>C | XP_011520781.1:p.Ser359= | |
XM_011522480.1:c.735A>C | XP_011520782.1:p.Ser245= | |
XM_011522481.1:c.735A>C | XP_011520783.1:p.Ser245= | |
XM_011522482.1:c.1077A>C | XP_011520784.1:p.Ser359= | |
XR_932836.1:n.1312A>C | ||
XR_932837.1:n.1313A>C | ||
XR_932838.1:n.1313A>C | ||
NM_001351800.1:c.735A>C | NP_001338729.1:p.Ser245= | |
NR_147784.1:n.1114A>C | ||
XM_011522479.2:c.1077A>C | XP_011520781.1:p.Ser359= | |
XM_011522481.3:c.735A>C | XP_011520783.1:p.Ser245= | |
XM_011522482.3:c.1077A>C | XP_011520784.1:p.Ser359= | |
XM_017023212.1:c.1077A>C | XP_016878701.1:p.Ser359= | |
XM_017023214.1:c.1077A>C | XP_016878703.1:p.Ser359= | |
XM_024450261.1:c.1113A>C | XP_024306029.1:p.Ser371= | |
XR_932836.2:n.1258A>C | ||
XR_932837.3:n.1258A>C | ||
XR_932838.3:n.1258A>C | ||
NM_001171.6:c.1077A>C MANE Select | NP_001162.5:p.Ser359= |