Linked Data
dbSNP Id:
rs752110136
ExAC:
17:4802677 A / G
gnomAD v2:
17-4802677-A-G
gnomAD v4:
17-4899382-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4899382A>G , CM000679.2:g.4899382A>G | GRCh38 |
| NC_000017.10:g.4802677A>G , CM000679.1:g.4802677A>G | GRCh37 |
| NC_000017.9:g.4743456A>G | NCBI36 |
| NG_008029.2:g.8694T>C | |
| NG_028005.1:g.71043A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.1035T>C MANE Select | ENSP00000497829.1:p.Val345= | |
| ENST00000649830.1:c.102T>C | ENSP00000496907.1:p.Val34= | |
| ENST00000652550.1:n.765T>C | ||
| ENST00000293780.4:c.1035T>C | ENSP00000293780.4:p.Val345= | |
| ENST00000572438.1:n.721T>C | ||
| NM_000080.3:c.1035T>C | NP_000071.1:p.Val345= | |
| NM_000080.4:c.1035T>C MANE Select | NP_000071.1:p.Val345= | |
| XM_017024115.1:c.999T>C | XP_016879604.1:p.Val333= | |
| XR_001752421.1:n.1765T>C |