Linked Data
dbSNP Id:
rs758017653
ExAC:
6:3226038 A / G
gnomAD v2:
6-3226038-A-G
gnomAD v3:
6-3225804-A-G
gnomAD v4:
6-3225804-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.3225804A>G , CM000668.2:g.3225804A>G | GRCh38 |
| NC_000006.11:g.3226038A>G , CM000668.1:g.3226038A>G | GRCh37 |
| NC_000006.10:g.3171037A>G | NCBI36 |
| NG_016715.1:g.6931T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259818.8:c.285T>C MANE Select | ENSP00000259818.6:p.Ser95= | |
| ENST00000680070.1:n.1215T>C | ||
| ENST00000681707.1:n.1112T>C | ||
| ENST00000681757.1:n.590T>C | ||
| ENST00000259818.7:c.285T>C | ENSP00000259818.6:p.Ser95= | |
| ENST00000473006.1:n.402T>C | ||
| NM_178012.4:c.285T>C | NP_821080.1:p.Ser95= | |
| XM_011514571.1:c.69T>C | XP_011512873.1:p.Ser23= | |
| NM_178012.5:c.285T>C MANE Select | NP_821080.1:p.Ser95= |