Linked Data
ClinVar Variation Id:
756741
dbSNP Id:
rs143931833
ExAC:
12:102155509 G / A
gnomAD v2:
12-102155509-G-A
gnomAD v3:
12-101761731-G-A
gnomAD v4:
12-101761731-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101761731G>A , CM000674.2:g.101761731G>A | GRCh38 |
| NC_000012.11:g.102155509G>A , CM000674.1:g.102155509G>A | GRCh37 |
| NC_000012.10:g.100679640G>A | NCBI36 |
| NG_021243.1:g.74137C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.2748C>T MANE Select | ENSP00000299314.7:p.Tyr916= | |
| ENST00000299314.11:c.2748C>T | ENSP00000299314.7:p.Tyr916= | |
| NM_024312.4:c.2748C>T | NP_077288.2:p.Tyr916= | |
| XM_006719593.2:c.2748C>T | XP_006719656.1:p.Tyr916= | |
| XM_011538731.1:c.2667C>T | XP_011537033.1:p.Tyr889= | |
| XM_006719593.3:c.2748C>T | XP_006719656.1:p.Tyr916= | |
| XM_011538731.2:c.2667C>T | XP_011537033.1:p.Tyr889= | |
| XM_017019961.1:c.2532C>T | XP_016875450.1:p.Tyr844= | |
| XM_017019962.2:c.1521C>T | XP_016875451.1:p.Tyr507= | |
| NM_024312.5:c.2748C>T MANE Select | NP_077288.2:p.Tyr916= |