Linked Data
dbSNP Id:
rs200347843
ExAC:
10:96534972 G / C
gnomAD v2:
10-96534972-G-C
gnomAD v3:
10-94775215-G-C
gnomAD v4:
10-94775215-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94775215G>C , CM000672.2:g.94775215G>C | GRCh38 |
| NC_000010.10:g.96534972G>C , CM000672.1:g.96534972G>C | GRCh37 |
| NC_000010.9:g.96524962G>C | NCBI36 |
| NG_008384.2:g.17510G>C | |
| NG_008384.3:g.17535G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371321.9:c.326G>C MANE Select | ENSP00000360372.3:p.Gly109Ala | |
| ENST00000645461.1:n.1379G>C | ||
| ENST00000371321.7:c.326G>C | ENSP00000360372.3:p.Gly109Ala | |
| ENST00000464755.1:c.1089G>C | ENSP00000483243.1:n.1089G>C | |
| ENST00000480405.2:c.326G>C | ENSP00000483847.1:p.Gly109Ala | |
| NM_000769.2:c.326G>C | NP_000760.1:p.Gly109Ala | |
| NM_000769.4:c.326G>C MANE Select | NP_000760.1:p.Gly109Ala |