Linked Data
dbSNP Id:
rs554806195
ExAC:
16:16256970 T / C
gnomAD v2:
16-16256970-T-C
gnomAD v3:
16-16163113-T-C
gnomAD v4:
16-16163113-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16163113T>C , CM000678.2:g.16163113T>C | GRCh38 |
| NC_000016.9:g.16256970T>C , CM000678.1:g.16256970T>C | GRCh37 |
| NC_000016.8:g.16164471T>C | NCBI36 |
| NG_007558.2:g.65359A>G | |
| NG_007558.3:g.65505A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3386A>G | ENSP00000483331.2:p.Glu1129Gly | |
| ENST00000205557.12:c.3386A>G MANE Select | ENSP00000205557.7:p.Glu1129Gly | |
| ENST00000640696.1:c.321-1549A>G | ENSP00000492197.1:n.321-1549A>G | |
| ENST00000205557.11:c.3386A>G | ENSP00000205557.7:p.Glu1129Gly | |
| ENST00000456970.6:c.3132-1549A>G | ENSP00000405002.2:n.3132-1549A>G | |
| ENST00000622290.4:c.*595A>G | ENSP00000483331.1:n.*595A>G | |
| NM_001171.5:c.3386A>G | NP_001162.4:p.Glu1129Gly | |
| XM_011522479.1:c.3353A>G | XP_011520781.1:p.Glu1118Gly | |
| XM_011522480.1:c.3044A>G | XP_011520782.1:p.Glu1015Gly | |
| XM_011522481.1:c.3044A>G | XP_011520783.1:p.Glu1015Gly | |
| XR_932836.1:n.3621A>G | ||
| XR_932837.1:n.3543-1549A>G | ||
| XR_932838.1:n.3543-1549A>G | ||
| XR_933133.1:n.407+270T>C | ||
| XR_933134.1:n.754+270T>C | ||
| NM_001351800.1:c.3044A>G | NP_001338729.1:p.Glu1015Gly | |
| NR_147784.1:n.3169-1549A>G | ||
| XM_011522479.2:c.3353A>G | XP_011520781.1:p.Glu1118Gly | |
| XM_011522481.3:c.3044A>G | XP_011520783.1:p.Glu1015Gly | |
| XM_017023212.1:c.3218A>G | XP_016878701.1:p.Glu1073Gly | |
| XM_017023214.1:c.3307-1549A>G | XP_016878703.1:n.3307-1549A>G | |
| XM_024450261.1:c.3422A>G | XP_024306029.1:p.Glu1141Gly | |
| XR_932836.2:n.3567A>G | ||
| XR_932837.3:n.3488-1549A>G | ||
| XR_932838.3:n.3488-1549A>G | ||
| NM_001171.6:c.3386A>G MANE Select | NP_001162.5:p.Glu1129Gly |