Linked Data
ClinVar Variation Id:
2056110
ClinVar RCV Id:
RCV002938389
dbSNP Id:
rs572566754
ExAC:
7:138522694 C / T
gnomAD v2:
7-138522694-C-T
gnomAD v3:
7-138837949-C-T
gnomAD v4:
7-138837949-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138837949C>T , CM000669.2:g.138837949C>T | GRCh38 |
| NC_000007.13:g.138522694C>T , CM000669.1:g.138522694C>T | GRCh37 |
| NC_000007.12:g.138173234C>T | NCBI36 |
| NG_032965.1:g.148371G>A | |
| NG_032965.2:g.148370G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000422774.2:c.5810G>A (KIAA1549) MANE Select | ENSP00000416040.2:p.Arg1937Gln | |
| ENST00000413208.1:c.235C>T (TMEM213) | ENSP00000401570.1:p.Arg79Trp | |
| ENST00000422774.1:c.5810G>A (KIAA1549) | ENSP00000416040.1:p.Arg1937Gln | |
| ENST00000440172.5:c.5762G>A (KIAA1549) | ENSP00000406661.1:p.Arg1921Gln | |
| NM_001164665.1:c.5810G>A (KIAA1549) | NP_001158137.1:p.Arg1937Gln | |
| NM_020910.2:c.5762G>A (KIAA1549) | NP_065961.2:p.Arg1921Gln | |
| XM_011516442.1:c.5729G>A (KIAA1549) | XP_011514744.1:p.Arg1910Gln | |
| XM_011516442.2:c.5729G>A (KIAA1549) | XP_011514744.1:p.Arg1910Gln | |
| NM_001164665.2:c.5810G>A (KIAA1549) MANE Select | NP_001158137.1:p.Arg1937Gln | |
| NM_020910.3:c.5762G>A (KIAA1549) | NP_065961.2:p.Arg1921Gln |