Linked Data
dbSNP Id:
rs763700666
ExAC:
3:69168539 T / G
gnomAD v2:
3-69168539-T-G
gnomAD v3:
3-69119388-T-G
gnomAD v4:
3-69119388-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119388T>G , CM000665.2:g.69119388T>G | GRCh38 |
| NC_000003.11:g.69168539T>G , CM000665.1:g.69168539T>G | GRCh37 |
| NC_000003.10:g.69251229T>G | NCBI36 |
| NG_041828.1:g.8208A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.967A>C MANE Select | ENSP00000414670.3:p.Thr323Pro | |
| ENST00000420581.6:c.967A>C | ENSP00000414670.2:p.Thr323Pro | |
| ENST00000475434.1:c.967A>C | ENSP00000418645.1:p.Thr323Pro | |
| ENST00000489031.5:c.967A>C | ENSP00000417210.1:p.Thr323Pro | |
| NM_001304418.1:c.967A>C | NP_001291347.1:p.Thr323Pro | |
| NM_198271.4:c.967A>C | NP_938012.2:p.Thr323Pro | |
| NM_001304418.3:c.967A>C | NP_001291347.1:p.Thr323Pro | |
| NM_198271.5:c.967A>C MANE Select | NP_938012.2:p.Thr323Pro |