Linked Data
ClinVar Variation Id:
506139
dbSNP Id:
rs550807341
ExAC:
11:17569088 G / T
gnomAD v2:
11-17569088-G-T
gnomAD v3:
11-17547541-G-T
gnomAD v4:
11-17547541-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.17547541G>T , CM000673.2:g.17547541G>T | GRCh38 |
| NC_000011.9:g.17569088G>T , CM000673.1:g.17569088G>T | GRCh37 |
| NC_000011.8:g.17525664G>T | NCBI36 |
| NG_011883.1:g.1876C>A | |
| NG_033191.1:g.5169G>T | |
| NG_011883.2:g.1876C>A | |
| NG_033191.2:g.5169G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399391.7:c.169G>T | ENSP00000382323.2:p.Ala57Ser | |
| ENST00000399397.6:c.94+75G>T MANE Select | ENSP00000382329.2:n.94+75G>T | |
| ENST00000399391.6:c.169G>T | ENSP00000382323.2:p.Ala57Ser | |
| ENST00000399397.5:c.94+75G>T | ENSP00000382329.2:n.94+75G>T | |
| NM_001277269.1:c.169G>T | NP_001264198.1:p.Ala57Ser | |
| NM_001292063.1:c.94+75G>T | NP_001278992.1:n.94+75G>T | |
| NM_001277269.2:c.169G>T | NP_001264198.1:p.Ala57Ser | |
| NM_001292063.2:c.94+75G>T MANE Select | NP_001278992.1:n.94+75G>T |