Linked Data
dbSNP Id:
rs765738033
ExAC:
17:39743083 T / C
gnomAD v2:
17-39743083-T-C
gnomAD v4:
17-41586831-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.41586831T>C , CM000679.2:g.41586831T>C | GRCh38 |
| NC_000017.10:g.39743083T>C , CM000679.1:g.39743083T>C | GRCh37 |
| NC_000017.9:g.36996609T>C | NCBI36 |
| NG_008624.1:g.5065A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000167586.7:c.4A>G MANE Select | ENSP00000167586.6:p.Thr2Ala | |
| ENST00000167586.6:c.4A>G | ENSP00000167586.6:p.Thr2Ala | |
| NM_000526.4:c.4A>G | NP_000517.2:p.Thr2Ala | |
| NM_000526.5:c.4A>G MANE Select | NP_000517.3:p.Thr2Ala |