Linked Data
ClinVar Variation Id:
2977518
ClinVar RCV Id:
RCV003834116
dbSNP Id:
rs3027646
gnomAD v3:
X-101353220-T-A
gnomAD v4:
X-101353220-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.101353220T>A , CM000685.2:g.101353220T>A | GRCh38 |
| NC_000023.10:g.100608208T>A , CM000685.1:g.100608208T>A | GRCh37 |
| NC_000023.9:g.100494864T>A | NCBI36 |
| NG_009616.1:g.38005A>T , LRG_128:g.38005A>T | |
| NG_011734.1:g.750A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478995.2:n.3399A>T | ||
| ENST00000488970.2:n.4038A>T | ||
| ENST00000695614.1:c.1882A>T | ENSP00000512053.1:p.Thr628Ser | |
| ENST00000695615.1:c.1882A>T | ENSP00000512054.1:p.Thr628Ser | |
| ENST00000695616.1:c.*1727A>T | ENSP00000512055.1:n.*1727A>T | |
| ENST00000695617.1:c.1879A>T | ENSP00000512056.1:p.Thr627Ser | |
| ENST00000695618.1:c.*1631A>T | ENSP00000512058.1:n.*1631A>T | |
| ENST00000695619.1:c.*1592A>T | ENSP00000512059.1:n.*1592A>T | |
| ENST00000695620.1:c.*1808A>T | ENSP00000512060.1:n.*1808A>T | |
| ENST00000695621.1:c.*307A>T | ENSP00000512061.1:n.*307A>T | |
| ENST00000695622.1:c.1819A>T | ENSP00000512062.1:p.Thr607Ser | |
| ENST00000695623.1:c.1876A>T | ENSP00000512063.1:p.Thr626Ser | |
| ENST00000695624.1:n.1187A>T | ||
| ENST00000695625.1:c.1875+7A>T | ENSP00000512064.1:n.1875+7A>T | |
| ENST00000695626.1:c.637A>T | ENSP00000512065.1:n.637A>T | |
| ENST00000695627.1:c.830A>T | ENSP00000512066.1:n.830A>T | |
| ENST00000695628.1:c.441A>T | ENSP00000512067.1:n.441A>T | |
| ENST00000695629.1:c.322A>T | ENSP00000512068.1:p.Thr108Ser | |
| ENST00000695630.1:c.609A>T | ||
| ENST00000695631.1:c.143A>T | ||
| ENST00000703407.1:c.1354A>T | ENSP00000512057.1:p.Thr452Ser | |
| ENST00000308731.8:c.1882A>T MANE Select | ENSP00000308176.8:p.Thr628Ser | |
| ENST00000308731.7:c.1882A>T | ENSP00000308176.7:p.Thr628Ser | |
| ENST00000372880.5:c.1354A>T | ENSP00000361971.1:p.Thr452Ser | |
| ENST00000470069.1:n.247A>T | ||
| ENST00000618050.4:c.1881A>T | ENSP00000479125.1:n.1881A>T | |
| ENST00000621635.4:c.1984A>T | ENSP00000483570.1:p.Thr662Ser | |
| NM_000061.2:c.1882A>T , LRG_128t1:c.1882A>T | NP_000052.1:p.Thr628Ser | |
| NM_001287344.1:c.1984A>T | NP_001274273.1:p.Thr662Ser | |
| NM_001287345.1:c.1354A>T | NP_001274274.1:p.Thr452Ser | |
| NM_000061.3:c.1882A>T MANE Select | NP_000052.1:p.Thr628Ser | |
| NM_001287344.2:c.1984A>T | NP_001274273.1:p.Thr662Ser | |
| NM_001287345.2:c.1354A>T | NP_001274274.1:p.Thr452Ser |