Linked Data
dbSNP Id:
rs144376609
ExAC:
X:47426119 G / A
gnomAD v2:
X-47426119-G-A
gnomAD v3:
X-47566720-G-A
gnomAD v4:
X-47566720-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.47566720G>A , CM000685.2:g.47566720G>A | GRCh38 |
| NC_000023.10:g.47426119G>A , CM000685.1:g.47426119G>A | GRCh37 |
| NC_000023.9:g.47311063G>A | NCBI36 |
| NG_016339.1:g.10604G>A | |
| NG_016339.2:g.10604G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000377045.9:c.639G>A MANE Select | ENSP00000366244.4:p.Thr213= | |
| ENST00000290277.10:c.648G>A | ENSP00000290277.7:p.Thr216= | |
| ENST00000377045.8:c.639G>A | ENSP00000366244.4:p.Thr213= | |
| NM_001256196.1:c.648G>A | NP_001243125.1:p.Thr216= | |
| NM_001654.4:c.639G>A | NP_001645.1:p.Thr213= | |
| XM_006724529.1:c.654G>A | XP_006724592.1:p.Thr218= | |
| XM_011543906.1:c.654G>A | XP_011542208.1:p.Thr218= | |
| XM_011543907.1:c.654G>A | XP_011542209.1:p.Thr218= | |
| XM_011543908.1:c.639G>A | XP_011542210.1:p.Thr213= | |
| XM_011543909.1:c.-19G>A | XP_011542211.1:n.-19G>A | |
| XM_006724529.3:c.654G>A | XP_006724592.1:p.Thr218= | |
| XM_011543906.3:c.654G>A | XP_011542208.1:p.Thr218= | |
| XM_011543908.3:c.639G>A | XP_011542210.1:p.Thr213= | |
| XM_011543909.3:c.-19G>A | XP_011542211.1:n.-19G>A | |
| NM_001654.5:c.639G>A MANE Select | NP_001645.1:p.Thr213= | |
| NM_001256196.2:c.648G>A | NP_001243125.1:p.Thr216= |