Linked Data
ClinVar Variation Id:
547986
dbSNP Id:
rs200808372
ExAC:
8:15397977 C / T
gnomAD v2:
8-15397977-C-T
gnomAD v3:
8-15540468-C-T
gnomAD v4:
8-15540468-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.15540468C>T , CM000670.2:g.15540468C>T | GRCh38 |
| NC_000008.10:g.15397977C>T , CM000670.1:g.15397977C>T | GRCh37 |
| NC_000008.9:g.15442348C>T | NCBI36 |
| NG_012141.2:g.5248C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000503731.6:c.38C>T MANE Select | ENSP00000424544.1:p.Ala13Val | |
| ENST00000382020.8:c.38C>T | ENSP00000371450.4:p.Ala13Val | |
| ENST00000503191.5:n.189+56985C>T | ||
| ENST00000503731.5:c.38C>T | ENSP00000424544.1:p.Ala13Val | |
| ENST00000506802.5:c.38C>T | ENSP00000425777.1:p.Ala13Val | |
| ENST00000509380.5:c.38C>T | ENSP00000423426.1:p.Ala13Val | |
| ENST00000510836.5:c.38C>T | ENSP00000426973.1:p.Ala13Val | |
| ENST00000515859.5:c.38C>T | ENSP00000420829.1:p.Ala13Val | |
| NM_006765.3:c.38C>T | NP_006756.2:p.Ala13Val | |
| NM_178234.2:c.38C>T | NP_839952.1:p.Ala13Val | |
| NM_001356429.1:c.38C>T | NP_001343358.1:p.Ala13Val | |
| NM_001356429.2:c.38C>T | NP_001343358.1:p.Ala13Val | |
| NM_006765.4:c.38C>T MANE Select | NP_006756.2:p.Ala13Val |