Linked Data
ClinVar Variation Id:
2723222
ClinVar RCV Id:
RCV003559252
dbSNP Id:
rs61763055
gnomAD v4:
14-31561544-C-A
MyVariant Identifiers:
chr14:g.32030750C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.31561544C>A , CM000676.2:g.31561544C>A | GRCh38 |
| NC_000014.8:g.32030750C>A , CM000676.1:g.32030750C>A | GRCh37 |
| NC_000014.7:g.31100501C>A | NCBI36 |
| NG_028349.1:g.5160C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281081.12:c.105C>A MANE Select | ENSP00000281081.7:p.Arg35= | |
| ENST00000281081.11:c.105C>A | ENSP00000281081.7:p.Arg35= | |
| ENST00000547839.5:c.105C>A | ENSP00000449918.1:p.Arg35= | |
| ENST00000548937.5:n.109C>A | ||
| ENST00000549838.5:c.69C>A | ENSP00000447658.1:p.Arg23= | |
| ENST00000550005.1:c.34-524C>A | ENSP00000446511.1:n.34-524C>A | |
| ENST00000550355.1:n.54C>A | ||
| ENST00000550649.5:c.105C>A | ENSP00000447618.1:p.Arg35= | |
| ENST00000552489.5:c.105C>A | ENSP00000447316.1:p.Arg35= | |
| NM_025152.2:c.105C>A | NP_079428.2:p.Arg35= | |
| NR_120408.1:n.160C>A | ||
| XM_005268099.3:c.105C>A | XP_005268156.1:p.Arg35= | |
| XM_011537182.1:c.-351C>A | XP_011535484.1:n.-351C>A | |
| XM_011537183.1:c.105C>A | XP_011535485.1:p.Arg35= | |
| XM_011537182.2:c.-351C>A | XP_011535484.1:n.-351C>A | |
| XM_011537183.2:c.105C>A | XP_011535485.1:p.Arg35= | |
| XM_017021664.1:c.105C>A | XP_016877153.1:p.Arg35= | |
| XM_017021665.2:c.105C>A | XP_016877154.1:p.Arg35= | |
| XM_017021666.1:c.105C>A | XP_016877155.1:p.Arg35= | |
| XM_017021667.1:c.-279C>A | XP_016877156.1:n.-279C>A | |
| NM_025152.3:c.105C>A MANE Select | NP_079428.2:p.Arg35= | |
| NR_120408.2:n.141C>A |