Linked Data
ClinVar Variation Id:
290907
dbSNP Id:
rs886044581
gnomAD v2:
2-219679315-C-T
gnomAD v3:
2-218814592-C-T
gnomAD v4:
2-218814592-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.218814592C>T , CM000664.2:g.218814592C>T | GRCh38 |
| NC_000002.11:g.219679315C>T , CM000664.1:g.219679315C>T | GRCh37 |
| NC_000002.10:g.219387559C>T | NCBI36 |
| NG_007959.1:g.37844C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258415.9:c.1311C>T MANE Select | ENSP00000258415.4:p.Ala437= | |
| ENST00000258415.8:c.1311C>T | ENSP00000258415.4:p.Ala437= | |
| ENST00000494263.5:n.2023C>T | ||
| NM_000784.3:c.1311C>T | NP_000775.1:p.Ala437= | |
| XM_017003488.2:c.891C>T | XP_016858977.1:p.Ala297= | |
| NM_000784.4:c.1311C>T MANE Select | NP_000775.1:p.Ala437= |