Linked Data
dbSNP Id:
rs752948515
gnomAD v4:
8-11564075-G-A
MyVariant Identifiers:
chr8:g.11421584G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11564075G>A , CM000670.2:g.11564075G>A | GRCh38 |
| NC_000008.10:g.11421584G>A , CM000670.1:g.11421584G>A | GRCh37 |
| NC_000008.9:g.11458993G>A | NCBI36 |
| NG_023543.1:g.75064G>A | |
| NG_023543.2:g.75064G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1593G>A | ||
| ENST00000696154.1:c.*803G>A | ENSP00000512445.1:n.*803G>A | |
| ENST00000696155.1:n.369G>A | ||
| ENST00000259089.9:c.1485G>A MANE Select | ENSP00000259089.4:p.Thr495= | |
| ENST00000645242.1:c.1272G>A | ENSP00000494690.1:p.Thr424= | |
| ENST00000259089.8:c.1485G>A | ENSP00000259089.4:p.Thr495= | |
| ENST00000526097.1:n.1425G>A | ||
| ENST00000529894.1:c.1272G>A | ENSP00000433663.1:p.Thr424= | |
| NM_001715.2:c.1485G>A | NP_001706.2:p.Thr495= | |
| XM_011543824.1:c.1563G>A | XP_011542126.1:p.Thr521= | |
| XM_011543825.1:c.1563G>A | XP_011542127.1:p.Thr521= | |
| XM_011543826.1:c.1563G>A | XP_011542128.1:p.Thr521= | |
| XM_011543827.1:c.1350G>A | XP_011542129.1:p.Thr450= | |
| NM_001330465.1:c.1272G>A | NP_001317394.1:p.Thr424= | |
| XM_011543825.3:c.1563G>A | XP_011542127.1:p.Thr521= | |
| NM_001715.3:c.1485G>A MANE Select | NP_001706.2:p.Thr495= | |
| NM_001330465.2:c.1272G>A | NP_001317394.1:p.Thr424= |