Linked Data
ClinVar Variation Id:
2916931
ClinVar RCV Id:
RCV003745242
dbSNP Id:
rs2061126216
gnomAD v4:
10-102396945-G-C
MyVariant Identifiers:
chr10:g.104156702G>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102396945G>C , CM000672.2:g.102396945G>C | GRCh38 |
| NC_000010.10:g.104156702G>C , CM000672.1:g.104156702G>C | GRCh37 |
| NC_000010.9:g.104146692G>C | NCBI36 |
| NG_033874.1:g.7836G>C | |
| NG_033874.2:g.7836G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697881.1:n.555G>C | ||
| ENST00000697882.1:n.280G>C | ||
| ENST00000189444.11:c.285G>C | ENSP00000189444.6:p.Leu95= | |
| ENST00000369966.8:c.285G>C | ENSP00000358983.3:p.Leu95= | |
| ENST00000428099.6:c.285G>C | ENSP00000410256.1:p.Leu95= | |
| ENST00000471698.6:n.773G>C | ||
| ENST00000652277.1:c.285G>C | ENSP00000498308.1:p.Leu95= | |
| ENST00000661543.1:c.285G>C MANE Select | ENSP00000499294.1:p.Leu95= | |
| ENST00000189444.10:c.285G>C | ENSP00000189444.6:p.Leu95= | |
| ENST00000369966.7:c.285G>C | ENSP00000358983.3:p.Leu95= | |
| ENST00000428099.5:c.285G>C | ENSP00000410256.1:p.Leu95= | |
| ENST00000467116.5:n.448G>C | ||
| ENST00000610498.1:c.285G>C | ENSP00000480211.1:p.Leu95= | |
| NM_001077494.3:c.285G>C | NP_001070962.1:p.Leu95= | |
| NM_001261403.2:c.285G>C | NP_001248332.1:p.Leu95= | |
| NM_001288724.1:c.285G>C | NP_001275653.1:p.Leu95= | |
| NM_002502.5:c.285G>C | NP_002493.3:p.Leu95= | |
| XM_005269860.1:c.285G>C | XP_005269917.1:p.Leu95= | |
| XM_005269861.3:c.285G>C | XP_005269918.1:p.Leu95= | |
| XM_011539830.1:c.-40-357G>C | XP_011538132.1:n.-40-357G>C | |
| NM_001322934.1:c.285G>C | NP_001309863.1:p.Leu95= | |
| NM_001322935.1:c.285G>C | NP_001309864.1:p.Leu95= | |
| XM_011539830.3:c.-40-357G>C | XP_011538132.1:n.-40-357G>C | |
| XM_017016278.1:c.828G>C | XP_016871767.1:p.Leu276= | |
| XM_024448026.1:c.159G>C | XP_024303794.1:p.Leu53= | |
| XM_024448027.1:c.-996G>C | XP_024303795.1:n.-996G>C | |
| NM_001261403.3:c.285G>C | NP_001248332.1:p.Leu95= | |
| NM_001322934.2:c.285G>C MANE Select | NP_001309863.1:p.Leu95= | |
| NM_002502.6:c.285G>C | NP_002493.3:p.Leu95= |