Linked Data
dbSNP Id:
rs745380673
ExAC:
10:101596012 C / G
gnomAD v2:
10-101596012-C-G
gnomAD v4:
10-99836255-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.99836255C>G , CM000672.2:g.99836255C>G | GRCh38 |
| NC_000010.10:g.101596012C>G , CM000672.1:g.101596012C>G | GRCh37 |
| NC_000010.9:g.101586002C>G | NCBI36 |
| NG_011798.1:g.58550C>G | |
| NG_011798.2:g.58658C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647814.1:c.3579C>G MANE Select | ENSP00000497274.1:p.Asn1193Lys | |
| ENST00000370449.8:c.3579C>G | ENSP00000359478.4:p.Asn1193Lys | |
| NM_000392.4:c.3579C>G | NP_000383.1:p.Asn1193Lys | |
| XM_006717630.2:c.2883C>G | XP_006717693.1:p.Asn961Lys | |
| XR_945604.1:n.3768C>G | ||
| XR_945605.1:n.3770C>G | ||
| NM_000392.5:c.3579C>G MANE Select | NP_000383.2:p.Asn1193Lys | |
| XM_006717630.3:c.2883C>G | XP_006717693.1:p.Asn961Lys | |
| XR_945604.3:n.3822C>G | ||
| XR_945605.3:n.3822C>G |