Linked Data
dbSNP Id:
rs752800292
ExAC:
4:997367 C / A
gnomAD v2:
4-997367-C-A
gnomAD v4:
4-1003579-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.1003579C>A , CM000666.2:g.1003579C>A | GRCh38 |
| NC_000004.11:g.997367C>A , CM000666.1:g.997367C>A | GRCh37 |
| NC_000004.10:g.987367C>A | NCBI36 |
| NG_008103.1:g.21583C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000247933.9:c.1681C>A | ENSP00000247933.4:p.Gln561Lys | |
| ENST00000514224.2:c.1681C>A MANE Select | ENSP00000425081.2:p.Gln561Lys | |
| ENST00000652070.1:n.1737C>A | ||
| ENST00000247933.8:c.1681C>A | ENSP00000247933.4:p.Gln561Lys | |
| ENST00000514224.1:c.1285C>A | ENSP00000425081.1:p.Gln429Lys | |
| ENST00000514417.1:n.73C>A | ||
| ENST00000514698.5:n.1788C>A | ||
| NM_000203.4:c.1681C>A | NP_000194.2:p.Gln561Lys | |
| NR_110313.1:n.1769C>A | ||
| XM_006713882.2:c.1285C>A | XP_006713945.1:p.Gln429Lys | |
| XM_011513459.1:c.1747C>A | XP_011511761.1:p.Gln583Lys | |
| XM_011513460.1:c.1540C>A | XP_011511762.1:p.Gln514Lys | |
| XM_011513461.1:c.1474C>A | XP_011511763.1:p.Gln492Lys | |
| XM_011513462.1:c.1393C>A | XP_011511764.1:p.Gln465Lys | |
| XM_011513463.1:c.1393C>A | XP_011511765.1:p.Gln465Lys | |
| XR_924947.1:n.1937C>A | ||
| NM_000203.5:c.1681C>A MANE Select | NP_000194.2:p.Gln561Lys | |
| NM_001363576.1:c.1285C>A | NP_001350505.1:p.Gln429Lys | |
| XM_011513461.2:c.1474C>A | XP_011511763.1:p.Gln492Lys | |
| XM_017008163.1:c.721C>A | XP_016863652.1:p.Gln241Lys |