Linked Data
ClinVar Variation Id:
644871
ClinVar RCV Id:
RCV000798857
dbSNP Id:
rs1421919089
gnomAD v2:
X-63004997-A-G
gnomAD v3:
X-63785117-A-G
gnomAD v4:
X-63785117-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.63785117A>G , CM000685.2:g.63785117A>G | GRCh38 |
| NC_000023.10:g.63004997A>G , CM000685.1:g.63004997A>G | GRCh37 |
| NC_000023.9:g.62921722A>G | NCBI36 |
| NG_016975.1:g.5430T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000671741.2:c.29T>C MANE Select | ENSP00000500715.1:p.Met10Thr | |
| ENST00000672467.1:n.98T>C | ||
| ENST00000374878.5:c.29T>C | ENSP00000364012.2:p.Met10Thr | |
| ENST00000437457.6:c.29T>C | ENSP00000399994.3:p.Met10Thr | |
| ENST00000623417.3:c.-118+10399T>C | ENSP00000485083.1:n.-118+10399T>C | |
| ENST00000623517.3:c.29T>C | ENSP00000485369.1:p.Met10Thr | |
| ENST00000624355.1:c.-133T>C | ENSP00000485327.1:n.-133T>C | |
| ENST00000625116.3:c.-196T>C | ENSP00000485160.1:n.-196T>C | |
| NM_001173479.1:c.29T>C | NP_001166950.1:p.Met10Thr | |
| XM_005262249.1:c.29T>C | XP_005262306.1:p.Met10Thr | |
| XM_005262252.1:c.-133T>C | XP_005262309.1:n.-133T>C | |
| NM_001330495.1:c.-133T>C | NP_001317424.1:n.-133T>C | |
| NM_001353921.1:c.29T>C | NP_001340850.1:p.Met10Thr | |
| NM_001353922.1:c.29T>C | NP_001340851.1:p.Met10Thr | |
| XM_017029378.2:c.29T>C | XP_016884867.1:p.Met10Thr | |
| XM_024452358.1:c.-133T>C | XP_024308126.1:n.-133T>C | |
| NM_001173479.2:c.29T>C | NP_001166950.1:p.Met10Thr | |
| NM_001330495.2:c.-133T>C | NP_001317424.1:n.-133T>C | |
| NM_001353921.2:c.29T>C MANE Select | NP_001340850.1:p.Met10Thr | |
| NM_001353922.2:c.29T>C | NP_001340851.1:p.Met10Thr | |
| NM_001369043.1:c.-133T>C | NP_001355972.1:n.-133T>C |