Linked Data
ClinVar Variation Id:
1399083
ClinVar RCV Id:
RCV001922724
dbSNP Id:
rs754481870
ExAC:
17:48263195 T / A
gnomAD v2:
17-48263195-T-A
gnomAD v4:
17-50185834-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.50185834T>A , CM000679.2:g.50185834T>A | GRCh38 |
| NC_000017.10:g.48263195T>A , CM000679.1:g.48263195T>A | GRCh37 |
| NC_000017.9:g.45618194T>A | NCBI36 |
| NG_007400.1:g.20806A>T , LRG_1:g.20806A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225964.10:c.4192A>T MANE Select | ENSP00000225964.6:p.Ile1398Phe | |
| ENST00000225964.9:c.4192A>T | ENSP00000225964.5:p.Ile1398Phe | |
| NM_000088.3:c.4192A>T , LRG_1t1:c.4192A>T | NP_000079.2:p.Ile1398Phe | |
| XM_005257058.3:c.3922A>T | XP_005257115.2:p.Ile1308Phe | |
| XM_005257059.3:c.3274A>T | XP_005257116.2:p.Ile1092Phe | |
| XM_011524341.1:c.3994A>T | XP_011522643.1:p.Ile1332Phe | |
| XM_005257058.4:c.3922A>T | XP_005257115.2:p.Ile1308Phe | |
| XM_005257059.4:c.3274A>T | XP_005257116.2:p.Ile1092Phe | |
| NM_000088.4:c.4192A>T MANE Select | NP_000079.2:p.Ile1398Phe |