Linked Data
ClinVar Variation Id:
538237
dbSNP Id:
rs754163075
ExAC:
2:29446331 T / G
gnomAD v2:
2-29446331-T-G
gnomAD v3:
2-29223465-T-G
gnomAD v4:
2-29223465-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29223465T>G , CM000664.2:g.29223465T>G | GRCh38 |
| NC_000002.11:g.29446331T>G , CM000664.1:g.29446331T>G | GRCh37 |
| NC_000002.10:g.29299835T>G | NCBI36 |
| NG_009445.1:g.703102A>C , LRG_488:g.703102A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3236A>C MANE Select | ENSP00000373700.3:p.Lys1079Thr | |
| ENST00000431873.6:c.463A>C | ||
| ENST00000638605.1:n.113A>C | ||
| ENST00000642122.1:c.32A>C | ENSP00000493203.1:p.Lys11Thr | |
| ENST00000389048.7:c.3236A>C | ENSP00000373700.3:p.Lys1079Thr | |
| ENST00000431873.5:c.116A>C | ENSP00000414027.2:p.Lys39Thr | |
| ENST00000618119.4:c.2105A>C | ENSP00000482733.1:p.Lys702Thr | |
| NM_004304.4:c.3236A>C | NP_004295.2:p.Lys1079Thr | |
| NM_001353765.1:c.32A>C | NP_001340694.1:p.Lys11Thr | |
| XM_024452778.1:c.389A>C | XP_024308546.1:p.Lys130Thr | |
| XM_024452779.1:c.32A>C | XP_024308547.1:p.Lys11Thr | |
| XR_001738688.2:n.4092A>C | ||
| NM_004304.5:c.3236A>C MANE Select | NP_004295.2:p.Lys1079Thr | |
| NM_001353765.2:c.32A>C | NP_001340694.1:p.Lys11Thr |