Linked Data
dbSNP Id:
rs778629614
ExAC:
12:15130959 A / G
gnomAD v2:
12-15130959-A-G
gnomAD v4:
12-14978025-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.14978025A>G , CM000674.2:g.14978025A>G | GRCh38 |
| NC_000012.11:g.15130959A>G , CM000674.1:g.15130959A>G | GRCh37 |
| NC_000012.10:g.15022226A>G | NCBI36 |
| NG_016859.1:g.10004A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266395.3:c.13A>G MANE Select | ENSP00000266395.2:p.Thr5Ala | |
| ENST00000266395.2:c.13A>G | ENSP00000266395.2:p.Thr5Ala | |
| NM_006205.2:c.13A>G | NP_006196.1:p.Thr5Ala | |
| XR_931376.1:n.175+11462T>C | ||
| XM_017019431.2:c.13A>G | XP_016874920.1:p.Thr5Ala | |
| XR_931376.2:n.389+11462T>C | ||
| NM_006205.3:c.13A>G MANE Select | NP_006196.1:p.Thr5Ala |