Linked Data
ClinVar Variation Id:
323306
dbSNP Id:
rs114687267
ExAC:
17:40696181 G / A
gnomAD v2:
17-40696181-G-A
gnomAD v3:
17-42544163-G-A
gnomAD v4:
17-42544163-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42544163G>A , CM000679.2:g.42544163G>A | GRCh38 |
| NC_000017.10:g.40696181G>A , CM000679.1:g.40696181G>A | GRCh37 |
| NC_000017.9:g.37949707G>A | NCBI36 |
| NG_011552.1:g.13231G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.2157G>A MANE Select | ENSP00000225927.1:p.Pro719= | |
| ENST00000225927.6:c.2157G>A | ENSP00000225927.1:p.Pro719= | |
| NM_000263.3:c.2157G>A | NP_000254.2:p.Pro719= | |
| XM_006721920.2:c.1326G>A | XP_006721983.1:p.Pro442= | |
| XM_011524840.1:c.1158G>A | XP_011523142.1:p.Pro386= | |
| XM_017024687.1:c.1326G>A | XP_016880176.1:p.Pro442= | |
| XM_024450771.1:c.2214G>A | XP_024306539.1:p.Pro738= | |
| XM_024450772.1:c.1158G>A | XP_024306540.1:p.Pro386= | |
| NM_000263.4:c.2157G>A MANE Select | NP_000254.2:p.Pro719= |