Linked Data
dbSNP Id:
rs775381312
gnomAD v4:
8-11564105-C-A
MyVariant Identifiers:
chr8:g.11421614C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.11564105C>A , CM000670.2:g.11564105C>A | GRCh38 |
| NC_000008.10:g.11421614C>A , CM000670.1:g.11421614C>A | GRCh37 |
| NC_000008.9:g.11459023C>A | NCBI36 |
| NG_023543.1:g.75094C>A | |
| NG_023543.2:g.75094C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696154.2:n.1623C>A | ||
| ENST00000696154.1:c.*833C>A | ENSP00000512445.1:n.*833C>A | |
| ENST00000696155.1:n.399C>A | ||
| ENST00000259089.9:c.1515C>A MANE Select | ENSP00000259089.4:p.Pro505= | |
| ENST00000645242.1:c.1302C>A | ENSP00000494690.1:p.Pro434= | |
| ENST00000259089.8:c.1515C>A | ENSP00000259089.4:p.Pro505= | |
| ENST00000526097.1:n.1455C>A | ||
| ENST00000529894.1:c.1302C>A | ENSP00000433663.1:p.Pro434= | |
| NM_001715.2:c.1515C>A | NP_001706.2:p.Pro505= | |
| XM_011543824.1:c.1593C>A | XP_011542126.1:p.Pro531= | |
| XM_011543825.1:c.1593C>A | XP_011542127.1:p.Pro531= | |
| XM_011543826.1:c.1593C>A | XP_011542128.1:p.Pro531= | |
| XM_011543827.1:c.1380C>A | XP_011542129.1:p.Pro460= | |
| NM_001330465.1:c.1302C>A | NP_001317394.1:p.Pro434= | |
| XM_011543825.3:c.1593C>A | XP_011542127.1:p.Pro531= | |
| NM_001715.3:c.1515C>A MANE Select | NP_001706.2:p.Pro505= | |
| NM_001330465.2:c.1302C>A | NP_001317394.1:p.Pro434= |