Linked Data
dbSNP Id:
rs1238043442
gnomAD v2:
17-40556710-C-A
gnomAD v3:
17-42404692-C-A
gnomAD v4:
17-42404692-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42404692C>A , CM000679.2:g.42404692C>A | GRCh38 |
| NC_000017.10:g.40556710C>A , CM000679.1:g.40556710C>A | GRCh37 |
| NC_000017.9:g.37810236C>A | NCBI36 |
| NG_015845.1:g.23629G>T | |
| NG_015845.2:g.23629G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000357037.6:c.1168G>T MANE Select | ENSP00000349541.4:p.Asp390Tyr | |
| ENST00000357037.5:c.1168G>T | ENSP00000349541.4:p.Asp390Tyr | |
| NM_012232.5:c.1168G>T | NP_036364.2:p.Asp390Tyr | |
| NM_012232.6:c.1168G>T MANE Select | NP_036364.2:p.Asp390Tyr |