Linked Data
ClinVar Variation Id:
324753
dbSNP Id:
rs7225547
ExAC:
17:6377804 C / T
gnomAD v2:
17-6377804-C-T
gnomAD v3:
17-6474484-C-T
gnomAD v4:
17-6474484-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.6474484C>T , CM000679.2:g.6474484C>T | GRCh38 |
| NC_000017.10:g.6377804C>T , CM000679.1:g.6377804C>T | GRCh37 |
| NC_000017.9:g.6318528C>T | NCBI36 |
| NG_016020.1:g.87074G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262483.13:c.1206G>A MANE Select | ENSP00000262483.8:p.Ser402= | |
| ENST00000262483.12:c.1206G>A | ENSP00000262483.8:p.Ser402= | |
| ENST00000421306.7:c.1098G>A | ENSP00000407882.3:p.Ser366= | |
| ENST00000572795.1:n.3712G>A | ||
| NM_001165966.1:c.1098G>A | NP_001159438.1:p.Ser366= | |
| NM_031220.3:c.1206G>A | NP_112497.2:p.Ser402= | |
| XM_011524014.1:c.1206G>A | XP_011522316.1:p.Ser402= | |
| XM_011524015.1:c.1206G>A | XP_011522317.1:p.Ser402= | |
| XM_011524016.1:c.1206G>A | XP_011522318.1:p.Ser402= | |
| XM_011524017.1:c.1206G>A | XP_011522319.1:p.Ser402= | |
| XM_011524015.3:c.1206G>A | XP_011522317.1:p.Ser402= | |
| XM_011524016.3:c.1206G>A | XP_011522318.1:p.Ser402= | |
| XM_011524017.3:c.1206G>A | XP_011522319.1:p.Ser402= | |
| NM_031220.4:c.1206G>A MANE Select | NP_112497.2:p.Ser402= | |
| NM_001165966.2:c.1098G>A | NP_001159438.1:p.Ser366= |