Linked Data
ClinVar Variation Id:
727753
dbSNP Id:
rs113038721
ExAC:
12:102161921 A / C
gnomAD v2:
12-102161921-A-C
gnomAD v3:
12-101768143-A-C
gnomAD v4:
12-101768143-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101768143A>C , CM000674.2:g.101768143A>C | GRCh38 |
| NC_000012.11:g.102161921A>C , CM000674.1:g.102161921A>C | GRCh37 |
| NC_000012.10:g.100686052A>C | NCBI36 |
| NG_021243.1:g.67725T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1302T>G MANE Select | ENSP00000299314.7:p.Pro434= | |
| ENST00000299314.11:c.1302T>G | ENSP00000299314.7:p.Pro434= | |
| ENST00000549940.5:c.1302T>G | ENSP00000449150.1:p.Pro434= | |
| NM_024312.4:c.1302T>G | NP_077288.2:p.Pro434= | |
| XM_006719593.2:c.1302T>G | XP_006719656.1:p.Pro434= | |
| XM_011538731.1:c.1221T>G | XP_011537033.1:p.Pro407= | |
| XM_006719593.3:c.1302T>G | XP_006719656.1:p.Pro434= | |
| XM_011538731.2:c.1221T>G | XP_011537033.1:p.Pro407= | |
| XM_017019961.1:c.1086T>G | XP_016875450.1:p.Pro362= | |
| XM_017019962.2:c.75T>G | XP_016875451.1:p.Pro25= | |
| NM_024312.5:c.1302T>G MANE Select | NP_077288.2:p.Pro434= |