Linked Data
dbSNP Id:
rs889891145
gnomAD v2:
9-100437772-G-A
gnomAD v3:
9-97675490-G-A
gnomAD v4:
9-97675490-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.97675490G>A , CM000671.2:g.97675490G>A | GRCh38 |
| NC_000009.11:g.100437772G>A , CM000671.1:g.100437772G>A | GRCh37 |
| NC_000009.10:g.99477593G>A | NCBI36 |
| NG_011642.1:g.26920C>T , LRG_471:g.26920C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375128.5:c.771C>T MANE Select | ENSP00000364270.5:p.Tyr257= | |
| ENST00000375128.4:c.771C>T | ENSP00000364270.4:p.Tyr257= | |
| ENST00000462523.5:c.*207C>T | ENSP00000433006.1:n.*207C>T | |
| ENST00000485042.1:n.283C>T | ||
| NM_000380.3:c.771C>T , LRG_471t1:c.771C>T | NP_000371.1:p.Tyr257= | |
| NR_027302.1:n.1119C>T | ||
| XM_006717278.1:c.771C>T | XP_006717341.1:p.Tyr257= | |
| XM_011518988.1:c.771C>T | XP_011517290.1:p.Tyr257= | |
| NM_001354975.1:c.645C>T | NP_001341904.1:p.Tyr215= | |
| NR_149091.1:n.616C>T | ||
| NR_149092.1:n.782C>T | ||
| NR_149093.1:n.1308C>T | ||
| NR_149094.1:n.1202C>T | ||
| NM_000380.4:c.771C>T MANE Select | NP_000371.1:p.Tyr257= | |
| NM_001354975.2:c.645C>T | NP_001341904.1:p.Tyr215= | |
| NR_027302.2:n.1050C>T | ||
| NR_149091.2:n.547C>T | ||
| NR_149092.2:n.713C>T | ||
| NR_149093.2:n.1239C>T | ||
| NR_149094.2:n.1133C>T |