Linked Data
ClinVar Variation Id:
499140
dbSNP Id:
rs749513254
ExAC:
19:39995980 G / T
gnomAD v2:
19-39995980-G-T
gnomAD v3:
19-39505340-G-T
gnomAD v4:
19-39505340-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.39505340G>T , CM000681.2:g.39505340G>T | GRCh38 |
| NC_000019.9:g.39995980G>T , CM000681.1:g.39995980G>T | GRCh37 |
| NC_000019.8:g.44687820G>T | NCBI36 |
| NG_008256.1:g.11424G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356433.10:c.982G>T MANE Select | ENSP00000348810.4:p.Val328Phe | |
| ENST00000205143.4:c.982G>T | ENSP00000205143.3:p.Val328Phe | |
| ENST00000356433.9:c.982G>T | ENSP00000348810.4:p.Val328Phe | |
| ENST00000596614.5:c.410-1699G>T | ENSP00000471688.1:n.410-1699G>T | |
| ENST00000600437.1:n.1062G>T | ||
| NM_016941.3:c.982G>T | NP_058637.1:p.Val328Phe | |
| NM_203486.2:c.982G>T | NP_982353.1:p.Val328Phe | |
| NM_016941.4:c.982G>T | NP_058637.1:p.Val328Phe | |
| NM_203486.3:c.982G>T MANE Select | NP_982353.1:p.Val328Phe |