Linked Data
ClinVar Variation Id:
1611095
ClinVar RCV Id:
RCV002147870
dbSNP Id:
rs775714752
ExAC:
17:8025327 G / A
gnomAD v2:
17-8025327-G-A
gnomAD v3:
17-8122009-G-A
gnomAD v4:
17-8122009-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8122009G>A , CM000679.2:g.8122009G>A | GRCh38 |
| NC_000017.10:g.8025327G>A , CM000679.1:g.8025327G>A | GRCh37 |
| NC_000017.9:g.7966052G>A | NCBI36 |
| NG_015807.1:g.1908C>T | |
| NG_015816.1:g.7084C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000541682.7:c.255C>T MANE Select | ENSP00000446205.2:p.Ser85= | |
| ENST00000317814.8:c.240C>T | ENSP00000314774.4:p.Ser80= | |
| ENST00000541682.6:c.255C>T | ENSP00000446205.2:p.Ser85= | |
| ENST00000577735.1:c.231C>T | ENSP00000462491.1:p.Ser77= | |
| NM_001165967.1:c.255C>T | NP_001159439.1:p.Ser85= | |
| NM_032580.3:c.240C>T | NP_115969.2:p.Ser80= | |
| XM_011524038.1:c.360C>T | XP_011522340.1:p.Ser120= | |
| XM_011524039.1:c.351C>T | XP_011522341.1:p.Ser117= | |
| XM_011524040.1:c.351C>T | XP_011522342.1:p.Ser117= | |
| XM_011524041.1:c.342C>T | XP_011522343.1:p.Ser114= | |
| XM_011524042.1:c.213C>T | XP_011522344.1:p.Ser71= | |
| XR_934203.1:n.69+2195G>A | ||
| XM_017025232.1:c.360C>T | XP_016880721.1:p.Ser120= | |
| XM_024451007.1:c.360C>T | XP_024306775.1:p.Ser120= | |
| NM_001165967.2:c.255C>T MANE Select | NP_001159439.1:p.Ser85= | |
| NM_032580.4:c.240C>T | NP_115969.2:p.Ser80= |