Linked Data
ClinVar Variation Id:
433353
dbSNP Id:
rs63751241
ExAC:
16:16248495 C / T
gnomAD v2:
16-16248495-C-T
gnomAD v3:
16-16154638-C-T
gnomAD v4:
16-16154638-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.16154638C>T , CM000678.2:g.16154638C>T | GRCh38 |
| NC_000016.9:g.16248495C>T , CM000678.1:g.16248495C>T | GRCh37 |
| NC_000016.8:g.16155996C>T | NCBI36 |
| NG_007558.2:g.73834G>A | |
| NG_007558.3:g.73980G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000622290.5:c.*370G>A | ENSP00000483331.2:n.*370G>A | |
| ENST00000205557.12:c.4198G>A MANE Select | ENSP00000205557.7:p.Glu1400Lys | |
| ENST00000640696.1:c.1012G>A | ENSP00000492197.1:p.Glu338Lys | |
| ENST00000205557.11:c.4198G>A | ENSP00000205557.7:p.Glu1400Lys | |
| ENST00000456970.6:c.3823G>A | ENSP00000405002.2:n.3823G>A | |
| ENST00000576204.5:n.1061G>A | ||
| ENST00000622290.4:c.*1407G>A | ENSP00000483331.1:n.*1407G>A | |
| NM_001171.5:c.4198G>A | NP_001162.4:p.Glu1400Lys | |
| XM_011522479.1:c.4165G>A | XP_011520781.1:p.Glu1389Lys | |
| XM_011522480.1:c.3856G>A | XP_011520782.1:p.Glu1286Lys | |
| XM_011522481.1:c.3856G>A | XP_011520783.1:p.Glu1286Lys | |
| XR_933134.1:n.539-5143C>T | ||
| NM_001351800.1:c.3856G>A | NP_001338729.1:p.Glu1286Lys | |
| NR_147784.1:n.3860G>A | ||
| XM_011522479.2:c.4165G>A | XP_011520781.1:p.Glu1389Lys | |
| XM_011522481.3:c.3856G>A | XP_011520783.1:p.Glu1286Lys | |
| XM_017023212.1:c.4030G>A | XP_016878701.1:p.Glu1344Lys | |
| XM_024450261.1:c.4234G>A | XP_024306029.1:p.Glu1412Lys | |
| NM_001171.6:c.4198G>A MANE Select | NP_001162.5:p.Glu1400Lys |