Linked Data
dbSNP Id:
rs2301720
ExAC:
7:27196069 A / C
gnomAD v2:
7-27196069-A-C
gnomAD v3:
7-27156450-A-C
gnomAD v4:
7-27156450-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.27156450A>C , CM000669.2:g.27156450A>C | GRCh38 |
| NC_000007.13:g.27196069A>C , CM000669.1:g.27196069A>C | GRCh37 |
| NC_000007.12:g.27162594A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242159.5:c.96T>G MANE Select | ENSP00000242159.3:p.Ala32= | |
| ENST00000242159.4:c.96T>G | ENSP00000242159.3:p.Ala32= | |
| NM_006896.3:c.96T>G | NP_008827.2:p.Ala32= | |
| NM_006896.4:c.96T>G MANE Select | NP_008827.2:p.Ala32= |