Linked Data
ClinVar Variation Id:
1954662
ClinVar RCV Id:
RCV002690109
dbSNP Id:
rs2046500980
gnomAD v3:
16-16155024-A-T
gnomAD v4:
16-16155024-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16155024A>T , CM000678.2:g.16155024A>T | GRCh38 |
| NC_000016.9:g.16248881A>T , CM000678.1:g.16248881A>T | GRCh37 |
| NC_000016.8:g.16156382A>T | NCBI36 |
| NG_007558.2:g.73448T>A | |
| NG_007558.3:g.73594T>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000576204.6:n.753T>A | ||
| ENST00000622290.5:c.*62T>A | ENSP00000483331.2:n.*62T>A | |
| ENST00000205557.12:c.3890T>A MANE Select | ENSP00000205557.7:p.Ile1297Asn | |
| ENST00000640696.1:c.704T>A | ENSP00000492197.1:p.Ile235Asn | |
| ENST00000205557.11:c.3890T>A | ENSP00000205557.7:p.Ile1297Asn | |
| ENST00000456970.6:c.3515T>A | ENSP00000405002.2:n.3515T>A | |
| ENST00000576204.5:n.753T>A | ||
| ENST00000622290.4:c.*1099T>A | ENSP00000483331.1:n.*1099T>A | |
| NM_001171.5:c.3890T>A | NP_001162.4:p.Ile1297Asn | |
| XM_011522479.1:c.3857T>A | XP_011520781.1:p.Ile1286Asn | |
| XM_011522480.1:c.3548T>A | XP_011520782.1:p.Ile1183Asn | |
| XM_011522481.1:c.3548T>A | XP_011520783.1:p.Ile1183Asn | |
| XR_932836.1:n.4188T>A | ||
| XR_932837.1:n.3926T>A | ||
| XR_932838.1:n.3989T>A | ||
| XR_933134.1:n.539-4757A>T | ||
| NM_001351800.1:c.3548T>A | NP_001338729.1:p.Ile1183Asn | |
| NR_147784.1:n.3552T>A | ||
| XM_011522479.2:c.3857T>A | XP_011520781.1:p.Ile1286Asn | |
| XM_011522481.3:c.3548T>A | XP_011520783.1:p.Ile1183Asn | |
| XM_017023212.1:c.3722T>A | XP_016878701.1:p.Ile1241Asn | |
| XM_024450261.1:c.3926T>A | XP_024306029.1:p.Ile1309Asn | |
| XR_932836.2:n.4134T>A | ||
| XR_932837.3:n.3871T>A | ||
| XR_932838.3:n.3934T>A | ||
| NM_001171.6:c.3890T>A MANE Select | NP_001162.5:p.Ile1297Asn |