Linked Data
ClinVar Variation Id:
2983392
ClinVar RCV Id:
RCV003848007
dbSNP Id:
rs1314634523
gnomAD v2:
10-79797038-G-A
gnomAD v3:
10-78037280-G-A
gnomAD v4:
10-78037280-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.78037280G>A , CM000672.2:g.78037280G>A | GRCh38 |
| NC_000010.10:g.79797038G>A , CM000672.1:g.79797038G>A | GRCh37 |
| NC_000010.9:g.79467044G>A | NCBI36 |
| NG_012633.1:g.8521G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360830.9:c.366G>A | ENSP00000354074.5:p.Lys122= | |
| ENST00000372360.9:c.366G>A MANE Select | ENSP00000361435.4:p.Lys122= | |
| ENST00000440692.6:c.366G>A | ENSP00000414321.1:p.Lys122= | |
| ENST00000464716.6:c.366G>A | ENSP00000494231.1:p.Lys122= | |
| ENST00000465692.2:n.377G>A | ||
| ENST00000476545.6:c.366G>A | ENSP00000494169.1:p.Lys122= | |
| ENST00000478655.6:n.405G>A | ||
| ENST00000485708.7:n.405G>A | ||
| ENST00000613865.5:c.366G>A | ENSP00000478869.2:p.Lys122= | |
| ENST00000645195.1:c.242G>A | ||
| ENST00000645440.1:c.366G>A | ENSP00000496738.1:p.Lys122= | |
| ENST00000645698.1:n.394G>A | ||
| ENST00000360830.8:c.366G>A | ENSP00000354074.4:p.Lys122= | |
| ENST00000372360.7:c.366G>A | ENSP00000361435.3:p.Lys122= | |
| ENST00000435275.5:c.366G>A | ENSP00000415549.1:p.Lys122= | |
| ENST00000440692.5:c.366G>A | ENSP00000414321.1:p.Lys122= | |
| ENST00000464716.5:n.394G>A | ||
| ENST00000465692.1:n.363G>A | ||
| ENST00000476545.5:n.390G>A | ||
| ENST00000478655.5:n.405G>A | ||
| ENST00000482069.5:n.433G>A | ||
| ENST00000485708.6:n.424G>A | ||
| ENST00000613865.4:c.366G>A | ENSP00000478869.1:p.Lys122= | |
| NM_001026.4:c.366G>A | NP_001017.1:p.Lys122= | |
| NM_001142282.1:c.366G>A | NP_001135754.1:p.Lys122= | |
| NM_001142283.1:c.366G>A | NP_001135755.1:p.Lys122= | |
| NM_001142284.1:c.366G>A | NP_001135756.1:p.Lys122= | |
| NM_001142285.1:c.366G>A | NP_001135757.1:p.Lys122= | |
| NM_033022.3:c.366G>A | NP_148982.1:p.Lys122= | |
| XM_011540034.1:c.519G>A | XP_011538336.1:p.Lys173= | |
| XM_011540035.1:c.519G>A | XP_011538337.1:p.Lys173= | |
| XM_011540036.1:c.519G>A | XP_011538338.1:p.Lys173= | |
| XM_011540037.1:c.519G>A | XP_011538339.1:p.Lys173= | |
| XM_011540038.1:c.519G>A | XP_011538340.1:p.Lys173= | |
| NM_001142285.2:c.366G>A | NP_001135757.1:p.Lys122= | |
| NM_033022.4:c.366G>A MANE Select | NP_148982.1:p.Lys122= | |
| NM_001026.5:c.366G>A | NP_001017.1:p.Lys122= | |
| NM_001142282.2:c.366G>A | NP_001135754.1:p.Lys122= | |
| NM_001142283.2:c.366G>A | NP_001135755.1:p.Lys122= | |
| NM_001142284.2:c.366G>A | NP_001135756.1:p.Lys122= |