Linked Data
dbSNP Id:
rs1194134430
gnomAD v2:
1-24175141-T-A
gnomAD v3:
1-23848651-T-A
gnomAD v4:
1-23848651-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.23848651T>A , CM000663.2:g.23848651T>A | GRCh38 |
| NC_000001.10:g.24175141T>A , CM000663.1:g.24175141T>A | GRCh37 |
| NC_000001.9:g.24047728T>A | NCBI36 |
| NG_013346.1:g.24719A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000374479.4:c.1158A>T MANE Select | ENSP00000363603.3:p.Val386= | |
| ENST00000374479.3:c.1158A>T | ENSP00000363603.3:p.Val386= | |
| NM_000147.4:c.1158A>T | NP_000138.2:p.Val386= | |
| XM_005245821.1:c.783A>T | XP_005245878.1:p.Val261= | |
| XM_011541167.1:c.525A>T | XP_011539469.1:p.Val175= | |
| XM_005245821.3:c.783A>T | XP_005245878.1:p.Val261= | |
| XM_011541167.3:c.525A>T | XP_011539469.1:p.Val175= | |
| XM_017000905.2:c.855A>T | XP_016856394.1:p.Val285= | |
| NM_000147.5:c.1158A>T MANE Select | NP_000138.2:p.Val386= | |
| NR_174379.1:n.1336A>T | ||
| NR_174380.1:n.1385A>T | ||
| NR_174381.1:n.1224A>T | ||
| NR_174382.1:n.1621A>T |