Linked Data
dbSNP Id:
rs1291477379
gnomAD v2:
16-16256891-A-G
gnomAD v3:
16-16163034-A-G
gnomAD v4:
16-16163034-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16163034A>G , CM000678.2:g.16163034A>G | GRCh38 |
| NC_000016.9:g.16256891A>G , CM000678.1:g.16256891A>G | GRCh37 |
| NC_000016.8:g.16164392A>G | NCBI36 |
| NG_007558.2:g.65438T>C | |
| NG_007558.3:g.65584T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.3465T>C | ENSP00000483331.2:p.Asp1155= | |
| ENST00000205557.12:c.3465T>C MANE Select | ENSP00000205557.7:p.Asp1155= | |
| ENST00000640696.1:c.321-1470T>C | ENSP00000492197.1:n.321-1470T>C | |
| ENST00000205557.11:c.3465T>C | ENSP00000205557.7:p.Asp1155= | |
| ENST00000456970.6:c.3132-1470T>C | ENSP00000405002.2:n.3132-1470T>C | |
| ENST00000622290.4:c.*674T>C | ENSP00000483331.1:n.*674T>C | |
| NM_001171.5:c.3465T>C | NP_001162.4:p.Asp1155= | |
| XM_011522479.1:c.3432T>C | XP_011520781.1:p.Asp1144= | |
| XM_011522480.1:c.3123T>C | XP_011520782.1:p.Asp1041= | |
| XM_011522481.1:c.3123T>C | XP_011520783.1:p.Asp1041= | |
| XR_932836.1:n.3700T>C | ||
| XR_932837.1:n.3543-1470T>C | ||
| XR_932838.1:n.3543-1470T>C | ||
| XR_933133.1:n.407+191A>G | ||
| XR_933134.1:n.754+191A>G | ||
| NM_001351800.1:c.3123T>C | NP_001338729.1:p.Asp1041= | |
| NR_147784.1:n.3169-1470T>C | ||
| XM_011522479.2:c.3432T>C | XP_011520781.1:p.Asp1144= | |
| XM_011522481.3:c.3123T>C | XP_011520783.1:p.Asp1041= | |
| XM_017023212.1:c.3297T>C | XP_016878701.1:p.Asp1099= | |
| XM_017023214.1:c.3307-1470T>C | XP_016878703.1:n.3307-1470T>C | |
| XM_024450261.1:c.3501T>C | XP_024306029.1:p.Asp1167= | |
| XR_932836.2:n.3646T>C | ||
| XR_932837.3:n.3488-1470T>C | ||
| XR_932838.3:n.3488-1470T>C | ||
| NM_001171.6:c.3465T>C MANE Select | NP_001162.5:p.Asp1155= |