Linked Data
ClinVar Variation Id:
3082920
ClinVar RCV Id:
RCV004376233
dbSNP Id:
rs867628571
gnomAD v4:
19-39507461-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39507461G>A , CM000681.2:g.39507461G>A | GRCh38 |
| NC_000019.9:g.39998101G>A , CM000681.1:g.39998101G>A | GRCh37 |
| NC_000019.8:g.44689941G>A | NCBI36 |
| NG_008256.1:g.13545G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.1516G>A MANE Select | ENSP00000348810.4:p.Ala506Thr | |
| ENST00000205143.4:c.1516G>A | ENSP00000205143.3:p.Ala506Thr | |
| ENST00000356433.9:c.1516G>A | ENSP00000348810.4:p.Ala506Thr | |
| NM_016941.3:c.1516G>A | NP_058637.1:p.Ala506Thr | |
| NM_203486.2:c.1516G>A | NP_982353.1:p.Ala506Thr | |
| NM_016941.4:c.1516G>A | NP_058637.1:p.Ala506Thr | |
| NM_203486.3:c.1516G>A MANE Select | NP_982353.1:p.Ala506Thr |