Linked Data
dbSNP Id:
rs2270875
ExAC:
8:132999936 A / G
gnomAD v2:
8-132999936-A-G
gnomAD v3:
8-131987689-A-G
gnomAD v4:
8-131987689-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.131987689A>G , CM000670.2:g.131987689A>G | GRCh38 |
| NC_000008.10:g.132999936A>G , CM000670.1:g.132999936A>G | GRCh37 |
| NC_000008.9:g.133069118A>G | NCBI36 |
| NG_028112.1:g.88581A>G | |
| NG_028112.2:g.88581A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000254624.10:c.2052A>G MANE Select | ENSP00000254624.5:p.Val684= | |
| ENST00000637848.1:c.2133A>G | ENSP00000490312.1:p.Val711= | |
| ENST00000254624.9:c.2052A>G | ENSP00000254624.5:p.Val684= | |
| ENST00000519656.1:c.1944A>G | ENSP00000428086.1:p.Val648= | |
| ENST00000519920.1:n.477A>G | ||
| NM_015137.4:c.2052A>G | NP_055952.2:p.Val684= | |
| XM_005250849.1:c.1944A>G | XP_005250906.1:p.Val648= | |
| XM_011516945.1:c.2121A>G | XP_011515247.1:p.Val707= | |
| XR_928314.1:n.2124A>G | ||
| NM_001323553.1:c.1944A>G | NP_001310482.1:p.Val648= | |
| NM_001323554.1:c.1944A>G | NP_001310483.1:p.Val648= | |
| NM_001323555.1:c.1944A>G | NP_001310484.1:p.Val648= | |
| NM_001323556.1:c.1944A>G | NP_001310485.1:p.Val648= | |
| NM_001323557.1:c.1944A>G | NP_001310486.1:p.Val648= | |
| NM_001323558.1:c.2052A>G | NP_001310487.1:p.Val684= | |
| NM_015137.5:c.2052A>G | NP_055952.2:p.Val684= | |
| NR_136615.1:n.2346A>G | ||
| NR_136616.1:n.2277A>G | ||
| XR_002956625.1:n.2200A>G | ||
| NM_015137.6:c.2052A>G MANE Select | NP_055952.2:p.Val684= | |
| NM_001323553.2:c.1944A>G | NP_001310482.1:p.Val648= | |
| NM_001323554.2:c.1944A>G | NP_001310483.1:p.Val648= | |
| NM_001323555.2:c.1944A>G | NP_001310484.1:p.Val648= | |
| NM_001323556.2:c.1944A>G | NP_001310485.1:p.Val648= | |
| NM_001323557.2:c.1944A>G | NP_001310486.1:p.Val648= | |
| NM_001323558.2:c.2052A>G | NP_001310487.1:p.Val684= | |
| NR_136615.2:n.2341A>G | ||
| NR_136616.2:n.2272A>G |