Linked Data
dbSNP Id:
rs754801907
ExAC:
19:36398464 A / G
gnomAD v2:
19-36398464-A-G
gnomAD v4:
19-35907562-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35907562A>G , CM000681.2:g.35907562A>G | GRCh38 |
| NC_000019.9:g.36398464A>G , CM000681.1:g.36398464A>G | GRCh37 |
| NC_000019.8:g.41090304A>G | NCBI36 |
| NG_009304.1:g.5723T>C , LRG_607:g.5723T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262629.9:c.113T>C MANE Select | ENSP00000262629.3:p.Val38Ala | |
| ENST00000262629.8:c.113T>C | ENSP00000262629.3:p.Val38Ala | |
| ENST00000424586.7:c.80T>C | ENSP00000402371.3:p.Val27Ala | |
| ENST00000544690.6:c.80T>C | ENSP00000445332.1:p.Val27Ala | |
| ENST00000585626.1:n.180T>C | ||
| ENST00000585901.6:c.113T>C | ENSP00000468608.1:p.Val38Ala | |
| ENST00000586946.1:c.106T>C | ENSP00000465656.1:p.Ter36Arg | |
| ENST00000587837.5:c.106T>C | ENSP00000465081.1:p.Ter36Arg | |
| ENST00000588439.1:n.257T>C | ||
| ENST00000589517.1:c.113T>C | ENSP00000468447.1:p.Val38Ala | |
| NM_001173514.1:c.80T>C | NP_001166985.1:p.Val27Ala | |
| NM_001173515.1:c.80T>C | NP_001166986.1:p.Val27Ala | |
| NM_003332.3:c.113T>C , LRG_607t1:c.113T>C | NP_003323.1:p.Val38Ala | |
| NM_198125.2:c.113T>C | NP_937758.1:p.Val38Ala | |
| NR_033390.1:n.154T>C | ||
| NM_001173514.2:c.80T>C | NP_001166985.1:p.Val27Ala | |
| NM_001173515.2:c.80T>C | NP_001166986.1:p.Val27Ala | |
| NM_003332.4:c.113T>C MANE Select | NP_003323.1:p.Val38Ala | |
| NM_198125.3:c.113T>C | NP_937758.1:p.Val38Ala | |
| NR_033390.2:n.140T>C |