Linked Data
ClinVar Variation Id:
324126
dbSNP Id:
rs200689194
ExAC:
17:48278897 C / T
gnomAD v2:
17-48278897-C-T
gnomAD v3:
17-50201536-C-T
gnomAD v4:
17-50201536-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50201536C>T , CM000679.2:g.50201536C>T | GRCh38 |
| NC_000017.10:g.48278897C>T , CM000679.1:g.48278897C>T | GRCh37 |
| NC_000017.9:g.45633896C>T | NCBI36 |
| NG_007400.1:g.5104G>A , LRG_1:g.5104G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.-23G>A MANE Select | ENSP00000225964.6:n.-23G>A | |
| ENST00000225964.9:c.-23G>A | ENSP00000225964.5:n.-23G>A | |
| ENST00000474644.1:n.97G>A | ||
| NM_000088.3:c.-23G>A , LRG_1t1:c.-23G>A | NP_000079.2:n.-23G>A | |
| XM_005257058.3:c.-23G>A | XP_005257115.2:n.-23G>A | |
| XM_005257059.3:c.-23G>A | XP_005257116.2:n.-23G>A | |
| XM_011524341.1:c.-23G>A | XP_011522643.1:n.-23G>A | |
| XM_005257058.4:c.-23G>A | XP_005257115.2:n.-23G>A | |
| XM_005257059.4:c.-23G>A | XP_005257116.2:n.-23G>A | |
| NM_000088.4:c.-23G>A MANE Select | NP_000079.2:n.-23G>A |