Linked Data
dbSNP Id:
rs566384016
ExAC:
16:17228546 A / G
gnomAD v2:
16-17228546-A-G
gnomAD v3:
16-17134689-A-G
gnomAD v4:
16-17134689-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.17134689A>G , CM000678.2:g.17134689A>G | GRCh38 |
| NC_000016.9:g.17228546A>G , CM000678.1:g.17228546A>G | GRCh37 |
| NC_000016.8:g.17136047A>G | NCBI36 |
| NG_015843.1:g.341193T>C | |
| NG_015843.2:g.341193T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261381.7:c.1811T>C MANE Select | ENSP00000261381.6:p.Val604Ala | |
| ENST00000261381.6:c.1811T>C | ENSP00000261381.6:p.Val604Ala | |
| NM_022166.3:c.1811T>C | NP_071449.1:p.Val604Ala | |
| XM_011522574.1:c.1811T>C | XP_011520876.1:p.Val604Ala | |
| XR_933140.1:n.82+139A>G | ||
| XR_933141.1:n.75+139A>G | ||
| XR_933143.1:n.82+139A>G | ||
| NR_135179.1:n.47+139A>G | ||
| XM_017023539.2:c.1811T>C | XP_016879028.1:p.Val604Ala | |
| XM_017023540.2:c.1811T>C | XP_016879029.1:p.Val604Ala | |
| NM_022166.4:c.1811T>C MANE Select | NP_071449.1:p.Val604Ala |