Linked Data
ClinVar Variation Id:
2428514
dbSNP Id:
rs754481870
gnomAD v2:
17-48263195-T-C
gnomAD v4:
17-50185834-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185834T>C , CM000679.2:g.50185834T>C | GRCh38 |
| NC_000017.10:g.48263195T>C , CM000679.1:g.48263195T>C | GRCh37 |
| NC_000017.9:g.45618194T>C | NCBI36 |
| NG_007400.1:g.20806A>G , LRG_1:g.20806A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4192A>G MANE Select | ENSP00000225964.6:p.Ile1398Val | |
| ENST00000225964.9:c.4192A>G | ENSP00000225964.5:p.Ile1398Val | |
| NM_000088.3:c.4192A>G , LRG_1t1:c.4192A>G | NP_000079.2:p.Ile1398Val | |
| XM_005257058.3:c.3922A>G | XP_005257115.2:p.Ile1308Val | |
| XM_005257059.3:c.3274A>G | XP_005257116.2:p.Ile1092Val | |
| XM_011524341.1:c.3994A>G | XP_011522643.1:p.Ile1332Val | |
| XM_005257058.4:c.3922A>G | XP_005257115.2:p.Ile1308Val | |
| XM_005257059.4:c.3274A>G | XP_005257116.2:p.Ile1092Val | |
| NM_000088.4:c.4192A>G MANE Select | NP_000079.2:p.Ile1398Val |