Linked Data
ClinVar Variation Id:
16667
ClinVar RCV Id:
RCV000018147
dbSNP Id:
rs5368
ExAC:
1:169696946 G / A
gnomAD v2:
1-169696946-G-A
gnomAD v3:
1-169727805-G-A
gnomAD v4:
1-169727805-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.169727805G>A , CM000663.2:g.169727805G>A | GRCh38 |
| NC_000001.10:g.169696946G>A , CM000663.1:g.169696946G>A | GRCh37 |
| NC_000001.9:g.167963570G>A | NCBI36 |
| NG_012124.1:g.11275C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000333360.12:c.1402C>T (SELE) MANE Select | ENSP00000331736.7:p.His468Tyr | |
| ENST00000333360.11:c.1402C>T (SELE) | ENSP00000331736.7:p.His468Tyr | |
| ENST00000367774.1:c.1091-280C>T (SELE) | ENSP00000356748.1:n.1091-280C>T | |
| ENST00000367775.5:c.1027C>T (SELE) | ENSP00000356749.1:p.His343Tyr | |
| ENST00000367776.5:c.1213C>T (SELE) | ENSP00000356750.1:p.His405Tyr | |
| ENST00000367777.5:c.1279+253C>T (SELE) | ENSP00000356751.1:n.1279+253C>T | |
| ENST00000498289.5:n.851+43873G>A (FIRRM) | ||
| NM_000450.2:c.1402C>T (SELE) MANE Select | NP_000441.2:p.His468Tyr |