Linked Data
ClinVar Variation Id:
1521787
dbSNP Id:
rs773343292
ExAC:
4:6303198 C / T
gnomAD v2:
4-6303198-C-T
gnomAD v3:
4-6301471-C-T
gnomAD v4:
4-6301471-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301471C>T , CM000666.2:g.6301471C>T | GRCh38 |
| NC_000004.11:g.6303198C>T , CM000666.1:g.6303198C>T | GRCh37 |
| NC_000004.10:g.6354099C>T | NCBI36 |
| NG_011700.1:g.36622C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1712C>T | ENSP00000507852.1:p.Ala571Val | |
| ENST00000683395.1:c.1653C>T | ||
| ENST00000684087.1:c.1676C>T | ENSP00000506978.1:p.Ala559Val | |
| ENST00000506362.2:c.1427C>T | ENSP00000424103.2:p.Ala476Val | |
| ENST00000673642.1:c.1335C>T | ENSP00000501242.1:n.1335C>T | |
| ENST00000673991.1:c.1712C>T | ENSP00000501033.1:p.Ala571Val | |
| ENST00000226760.5:c.1676C>T MANE Select | ENSP00000226760.1:p.Ala559Val | |
| ENST00000503569.5:c.1676C>T | ENSP00000423337.1:p.Ala559Val | |
| ENST00000507765.1:n.1861C>T | ||
| NM_001145853.1:c.1676C>T | NP_001139325.1:p.Ala559Val | |
| NM_006005.3:c.1676C>T MANE Select | NP_005996.2:p.Ala559Val | |
| XM_017008586.1:c.1685C>T | XP_016864075.1:p.Ala562Val |