Linked Data
ClinVar Variation Id:
1159428
dbSNP Id:
rs754966084
ExAC:
2:29443626 C / T
gnomAD v2:
2-29443626-C-T
gnomAD v4:
2-29220760-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220760C>T , CM000664.2:g.29220760C>T | GRCh38 |
| NC_000002.11:g.29443626C>T , CM000664.1:g.29443626C>T | GRCh37 |
| NC_000002.10:g.29297130C>T | NCBI36 |
| NG_009445.1:g.705807G>A , LRG_488:g.705807G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3591G>A MANE Select | ENSP00000373700.3:p.Glu1197= | |
| ENST00000431873.6:c.818G>A | ||
| ENST00000638605.1:n.468G>A | ||
| ENST00000642122.1:c.387G>A | ENSP00000493203.1:p.Glu129= | |
| ENST00000389048.7:c.3591G>A | ENSP00000373700.3:p.Glu1197= | |
| ENST00000431873.5:c.471G>A | ENSP00000414027.2:p.Glu157= | |
| ENST00000618119.4:c.2460G>A | ENSP00000482733.1:p.Glu820= | |
| NM_004304.4:c.3591G>A | NP_004295.2:p.Glu1197= | |
| NM_001353765.1:c.387G>A | NP_001340694.1:p.Glu129= | |
| XM_024452778.1:c.744G>A | XP_024308546.1:p.Glu248= | |
| XM_024452779.1:c.387G>A | XP_024308547.1:p.Glu129= | |
| NM_004304.5:c.3591G>A MANE Select | NP_004295.2:p.Glu1197= | |
| NM_001353765.2:c.387G>A | NP_001340694.1:p.Glu129= |