MyVariant.info:
GRCh37
chr7:g.87060750T>C
gnomAD v4:
Joint Max Group AF
0.00001773 (EAS)
Exomes Max Group AF
0.00002004 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.87431434T>C , CM000669.2:g.87431434T>C | GRCh38 |
| NC_000007.13:g.87060750T>C , CM000669.1:g.87060750T>C | GRCh37 |
| NC_000007.12:g.86898686T>C | NCBI36 |
| NG_007118.1:g.53999A>G | |
| NG_007118.2:g.53999A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359206.8:c.1863A>G | ENSP00000352135.3:p.Glu621= | |
| ENST00000643670.1:c.1879A>G | ENSP00000496629.1:n.1879A>G | |
| ENST00000644106.1:c.*1400A>G | ENSP00000493477.1:n.*1400A>G | |
| ENST00000649586.2:c.1863A>G MANE Select | ENSP00000496956.2:p.Glu621= | |
| ENST00000265723.8:c.1863A>G | ENSP00000265723.4:p.Glu621= | |
| ENST00000358400.7:c.1863A>G | ENSP00000351172.3:p.Glu621= | |
| ENST00000359206.7:c.1863A>G | ENSP00000352135.3:p.Glu621= | |
| ENST00000453593.5:c.1863A>G | ENSP00000392983.1:p.Glu621= | |
| ENST00000469770.1:n.67A>G | ||
| NM_000443.3:c.1863A>G | NP_000434.1:p.Glu621= | |
| NM_018849.2:c.1863A>G | NP_061337.1:p.Glu621= | |
| NM_018850.2:c.1863A>G | NP_061338.1:p.Glu621= | |
| XM_011516308.1:c.1863A>G | XP_011514610.1:p.Glu621= | |
| XM_011516309.1:c.1863A>G | XP_011514611.1:p.Glu621= | |
| XM_011516310.1:c.1863A>G | XP_011514612.1:p.Glu621= | |
| XM_011516311.1:c.1863A>G | XP_011514613.1:p.Glu621= | |
| XM_011516312.1:c.1863A>G | XP_011514614.1:p.Glu621= | |
| XM_011516313.1:c.1863A>G | XP_011514615.1:p.Glu621= | |
| XM_011516314.1:c.1884A>G | XP_011514616.1:p.Glu628= | |
| XM_011516315.1:c.1203A>G | XP_011514617.1:p.Glu401= | |
| XR_927478.1:n.1959A>G | ||
| XM_011516308.3:c.2133A>G | XP_011514610.3:p.Glu711= | |
| XM_011516309.3:c.2133A>G | XP_011514611.3:p.Glu711= | |
| XM_011516310.3:c.2133A>G | XP_011514612.3:p.Glu711= | |
| XM_011516311.3:c.2133A>G | XP_011514613.3:p.Glu711= | |
| XM_011516312.3:c.2133A>G | XP_011514614.3:p.Glu711= | |
| XM_011516313.3:c.2133A>G | XP_011514615.2:p.Glu711= | |
| XM_011516315.3:c.1203A>G | XP_011514617.2:p.Glu401= | |
| XM_017012323.2:c.1863A>G | XP_016867812.1:p.Glu621= | |
| XR_001744809.2:n.2634A>G | ||
| XR_001744810.2:n.2629A>G | ||
| NM_000443.4:c.1863A>G MANE Select | NP_000434.1:p.Glu621= | |
| NM_018849.3:c.1863A>G | NP_061337.1:p.Glu621= | |
| NM_018850.3:c.1863A>G | NP_061338.1:p.Glu621= |