Linked Data
dbSNP Id:
rs780332436
ExAC:
2:86257399 T / C
gnomAD v2:
2-86257399-T-C
gnomAD v4:
2-86030276-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.86030276T>C , CM000664.2:g.86030276T>C | GRCh38 |
| NC_000002.11:g.86257399T>C , CM000664.1:g.86257399T>C | GRCh37 |
| NC_000002.10:g.86110910T>C | NCBI36 |
| NG_050742.2:g.80880A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263857.11:c.4699A>G MANE Select | ENSP00000263857.6:p.Thr1567Ala | |
| ENST00000263857.10:c.4699A>G | ENSP00000263857.6:p.Thr1567Ala | |
| ENST00000409681.1:c.4516A>G | ENSP00000386300.1:p.Thr1506Ala | |
| NM_015425.3:c.4699A>G | NP_056240.2:p.Thr1567Ala | |
| XM_006711983.2:c.4375A>G | XP_006712046.1:p.Thr1459Ala | |
| NM_015425.5:c.4699A>G | NP_056240.2:p.Thr1567Ala | |
| NM_015425.6:c.4699A>G MANE Select | NP_056240.2:p.Thr1567Ala |