Linked Data
ClinVar Variation Id:
333802
dbSNP Id:
rs367909050
ExAC:
2:207631944 C / T
gnomAD v2:
2-207631944-C-T
gnomAD v3:
2-206767220-C-T
gnomAD v4:
2-206767220-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.206767220C>T , CM000664.2:g.206767220C>T | GRCh38 |
| NC_000002.11:g.207631944C>T , CM000664.1:g.207631944C>T | GRCh37 |
| NC_000002.10:g.207340189C>T | NCBI36 |
| NG_008984.1:g.6833C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402774.8:c.527C>T MANE Select | ENSP00000385990.3:p.Ala176Val | |
| ENST00000236980.10:c.527C>T | ENSP00000236980.6:p.Ala176Val | |
| ENST00000402774.7:c.527C>T | ENSP00000385990.3:p.Ala176Val | |
| ENST00000403094.3:c.527C>T | ENSP00000384929.3:p.Ala176Val | |
| ENST00000487777.5:n.585C>T | ||
| NM_001136193.1:c.527C>T | NP_001129665.1:p.Ala176Val | |
| NM_001136194.1:c.527C>T | NP_001129666.1:p.Ala176Val | |
| NM_014929.3:c.527C>T | NP_055744.2:p.Ala176Val | |
| NM_001136193.2:c.527C>T MANE Select | NP_001129665.1:p.Ala176Val | |
| NM_001136194.2:c.527C>T | NP_001129666.1:p.Ala176Val | |
| NM_014929.4:c.527C>T | NP_055744.2:p.Ala176Val |