Linked Data
ClinVar Variation Id:
392967
dbSNP Id:
rs748886997
ExAC:
4:15504488 G / A
gnomAD v2:
4-15504488-G-A
gnomAD v3:
4-15502865-G-A
gnomAD v4:
4-15502865-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.15502865G>A , CM000666.2:g.15502865G>A | GRCh38 |
| NC_000004.11:g.15504488G>A , CM000666.1:g.15504488G>A | GRCh37 |
| NC_000004.10:g.15113586G>A | NCBI36 |
| NG_013035.1:g.38000G>A , LRG_697:g.38000G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389652.11:c.380G>A | ENSP00000374303.8:p.Arg127Gln | |
| ENST00000424120.6:c.380G>A MANE Select | ENSP00000403465.1:p.Arg127Gln | |
| ENST00000503292.6:c.380G>A | ENSP00000421809.1:p.Arg127Gln | |
| ENST00000506643.5:c.233G>A | ENSP00000422931.2:p.Arg78Gln | |
| ENST00000512702.6:c.380G>A | ENSP00000422875.2:p.Arg127Gln | |
| ENST00000514450.3:c.380G>A | ENSP00000502062.1:p.Arg127Gln | |
| ENST00000634028.2:c.233G>A | ENSP00000488669.2:p.Arg78Gln | |
| ENST00000650860.2:c.233G>A | ENSP00000498775.1:p.Arg78Gln | |
| ENST00000651385.1:c.233G>A | ENSP00000499005.1:p.Arg78Gln | |
| ENST00000674945.1:c.233G>A | ENSP00000502333.1:p.Arg78Gln | |
| ENST00000676337.1:c.233G>A | ENSP00000501728.1:p.Arg78Gln | |
| ENST00000424120.5:c.380G>A | ENSP00000403465.1:p.Arg127Gln | |
| ENST00000503292.5:c.380G>A | ENSP00000421809.1:p.Arg127Gln | |
| ENST00000512702.5:c.380G>A | ENSP00000422875.1:p.Arg127Gln | |
| ENST00000513811.5:n.560G>A | ||
| ENST00000514450.2:n.535G>A | ||
| ENST00000634028.1:c.363G>A | ENSP00000488669.1:p.Ser121= | |
| NM_001080522.2:c.380G>A , LRG_697t1:c.380G>A | NP_001073991.2:p.Arg127Gln | |
| XM_005248177.1:c.380G>A | XP_005248234.1:p.Arg127Gln | |
| XM_011513869.1:c.380G>A | XP_011512171.1:p.Arg127Gln | |
| XM_011513870.1:c.380G>A | XP_011512172.1:p.Arg127Gln | |
| XM_011513871.1:c.233G>A | XP_011512173.1:p.Arg78Gln | |
| XM_011513872.1:c.380G>A | XP_011512174.1:p.Arg127Gln | |
| XM_011513873.1:c.380G>A | XP_011512175.1:p.Arg127Gln | |
| XM_011513872.3:c.380G>A | XP_011512174.1:p.Arg127Gln | |
| XM_017008482.1:c.233G>A | XP_016863971.1:p.Arg78Gln | |
| XR_001741296.1:n.580G>A | ||
| NM_001378615.1:c.380G>A MANE Select | NP_001365544.1:p.Arg127Gln | |
| NM_001378617.1:c.233G>A | NP_001365546.1:p.Arg78Gln |