Linked Data
dbSNP Id:
rs148730222
ExAC:
19:613942 A / G
gnomAD v2:
19-613942-A-G
gnomAD v3:
19-613942-A-G
gnomAD v4:
19-613942-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.613942A>G , CM000681.2:g.613942A>G | GRCh38 |
| NC_000019.9:g.613942A>G , CM000681.1:g.613942A>G | GRCh37 |
| NC_000019.8:g.564942A>G | NCBI36 |
| NG_052810.1:g.29050A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000251287.3:c.1916A>G MANE Select | ENSP00000251287.1:p.Asn639Ser | |
| ENST00000251287.2:c.1916A>G | ENSP00000251287.1:p.Asn639Ser | |
| NM_001194.3:c.1916A>G | NP_001185.3:p.Asn639Ser | |
| NM_001194.4:c.1916A>G MANE Select | NP_001185.3:p.Asn639Ser |