Linked Data
ClinVar Variation Id:
534264
ClinVar RCV Id:
RCV000641754
dbSNP Id:
rs751571040
ExAC:
9:34635848 C / T
gnomAD v2:
9-34635848-C-T
gnomAD v3:
9-34635851-C-T
gnomAD v4:
9-34635851-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.34635851C>T , CM000671.2:g.34635851C>T | GRCh38 |
| NC_000009.11:g.34635848C>T , CM000671.1:g.34635848C>T | GRCh37 |
| NC_000009.10:g.34625848C>T | NCBI36 |
| NG_029945.2:g.6921G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000277010.9:c.453G>A MANE Select | ENSP00000277010.4:p.Thr151= | |
| ENST00000497006.2:n.730G>A | ||
| ENST00000679597.1:c.393G>A | ENSP00000505634.1:p.Thr131= | |
| ENST00000680104.1:c.*623G>A | ENSP00000505949.1:n.*623G>A | |
| ENST00000680244.1:c.446-211G>A | ENSP00000505305.1:n.446-211G>A | |
| ENST00000680277.1:c.476G>A | ENSP00000505742.1:p.Arg159Gln | |
| ENST00000680730.1:c.313G>A | ENSP00000505588.1:p.Gly105Ser | |
| ENST00000681409.1:n.1840G>A | ||
| ENST00000277010.8:c.453G>A | ENSP00000277010.4:p.Thr151= | |
| ENST00000353468.4:c.*85G>A | ENSP00000434453.1:n.*85G>A | |
| ENST00000378892.5:c.186G>A | ENSP00000368170.1:p.Thr62= | |
| ENST00000461426.1:n.585G>A | ||
| ENST00000477726.1:c.360G>A | ENSP00000420022.1:p.Thr120= | |
| ENST00000497006.1:n.569G>A | ||
| NM_001282205.1:c.446-211G>A | NP_001269134.1:n.446-211G>A | |
| NM_001282206.1:c.153G>A | NP_001269135.1:p.Thr51= | |
| NM_001282207.1:c.393G>A | NP_001269136.1:p.Thr131= | |
| NM_001282208.1:c.476G>A | NP_001269137.1:p.Arg159Gln | |
| NM_001282209.1:c.313G>A | NP_001269138.1:p.Gly105Ser | |
| NM_005866.3:c.453G>A | NP_005857.1:p.Thr151= | |
| NM_147157.2:c.360G>A | NP_671513.1:p.Thr120= | |
| NR_104108.1:n.469G>A | ||
| XM_011517674.1:c.429G>A | XP_011515976.1:p.Thr143= | |
| NM_005866.4:c.453G>A MANE Select | NP_005857.1:p.Thr151= | |
| NM_001282205.2:c.446-211G>A | NP_001269134.1:n.446-211G>A | |
| NM_001282206.2:c.153G>A | NP_001269135.1:p.Thr51= | |
| NM_001282207.2:c.393G>A | NP_001269136.1:p.Thr131= | |
| NM_001282208.2:c.476G>A | NP_001269137.1:p.Arg159Gln | |
| NM_001282209.2:c.313G>A | NP_001269138.1:p.Gly105Ser | |
| NM_147157.3:c.360G>A | NP_671513.1:p.Thr120= | |
| NR_104108.2:n.430G>A |