Linked Data
dbSNP Id:
rs767244307
ExAC:
11:68675676 C / A
gnomAD v2:
11-68675676-C-A
gnomAD v4:
11-68908208-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68908208C>A , CM000673.2:g.68908208C>A | GRCh38 |
| NC_000011.9:g.68675676C>A , CM000673.1:g.68675676C>A | GRCh37 |
| NC_000011.8:g.68432252C>A | NCBI36 |
| NG_007976.1:g.9358C>A , LRG_250:g.9358C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.320C>A MANE Select | ENSP00000255078.4:p.Thr107Asn | |
| ENST00000539224.2:c.283C>A | ||
| ENST00000674583.1:c.283C>A | ||
| ENST00000674597.1:c.131C>A | ||
| ENST00000674955.1:c.320C>A | ENSP00000502463.1:p.Thr107Asn | |
| ENST00000675142.1:n.283C>A | ||
| ENST00000675469.1:c.196C>A | ||
| ENST00000675615.1:c.320C>A | ENSP00000502413.1:p.Thr107Asn | |
| ENST00000675674.1:n.283C>A | ||
| ENST00000675873.1:c.283C>A | ||
| ENST00000676173.1:n.364C>A | ||
| ENST00000676228.1:c.320C>A | ENSP00000502375.1:p.Thr107Asn | |
| ENST00000255078.7:c.320C>A | ENSP00000255078.3:p.Thr107Asn | |
| ENST00000539224.1:c.320C>A | ENSP00000440465.1:p.Thr107Asn | |
| ENST00000544541.1:c.*60C>A | ENSP00000443343.1:n.*60C>A | |
| NM_002180.2:c.320C>A , LRG_250t1:c.320C>A | NP_002171.2:p.Thr107Asn | |
| XM_005273974.2:c.-692C>A | XP_005274031.1:n.-692C>A | |
| XM_005273976.1:c.320C>A | XP_005274033.1:p.Thr107Asn | |
| XR_247198.1:n.422C>A | ||
| XR_949903.1:n.422C>A | ||
| XM_005273976.2:c.320C>A | XP_005274033.1:p.Thr107Asn | |
| XM_017017669.2:c.-594C>A | XP_016873158.1:n.-594C>A | |
| XM_017017671.2:c.320C>A | XP_016873160.1:p.Thr107Asn | |
| XR_949903.3:n.418C>A | ||
| NM_002180.3:c.320C>A MANE Select | NP_002171.2:p.Thr107Asn |