Linked Data
dbSNP Id:
rs772514521
ExAC:
3:186257283 A / G
gnomAD v2:
3-186257283-A-G
gnomAD v4:
3-186539494-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539494A>G , CM000665.2:g.186539494A>G | GRCh38 |
| NC_000003.11:g.186257283A>G , CM000665.1:g.186257283A>G | GRCh37 |
| NC_000003.10:g.187739977A>G | NCBI36 |
| NG_009829.1:g.9885T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.125T>C MANE Select | ENSP00000312099.5:p.Val42Ala | |
| ENST00000307944.5:c.125T>C | ENSP00000312099.5:p.Val42Ala | |
| ENST00000392499.6:c.125T>C | ENSP00000376287.2:p.Val42Ala | |
| ENST00000460288.1:n.1027T>C | ||
| NM_017541.2:c.125T>C | NP_060011.1:p.Val42Ala | |
| NM_017541.3:c.125T>C | NP_060011.1:p.Val42Ala | |
| NM_017541.4:c.125T>C MANE Select | NP_060011.1:p.Val42Ala |