Linked Data
ClinVar Variation Id:
281020
dbSNP Id:
rs145586576
ExAC:
12:102160052 A / C
gnomAD v2:
12-102160052-A-C
gnomAD v3:
12-101766274-A-C
gnomAD v4:
12-101766274-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101766274A>C , CM000674.2:g.101766274A>C | GRCh38 |
| NC_000012.11:g.102160052A>C , CM000674.1:g.102160052A>C | GRCh37 |
| NC_000012.10:g.100684183A>C | NCBI36 |
| NG_021243.1:g.69594T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1429T>G MANE Select | ENSP00000299314.7:p.Tyr477Asp | |
| ENST00000299314.11:c.1429T>G | ENSP00000299314.7:p.Tyr477Asp | |
| ENST00000552009.1:n.88T>G | ||
| NM_024312.4:c.1429T>G | NP_077288.2:p.Tyr477Asp | |
| XM_006719593.2:c.1429T>G | XP_006719656.1:p.Tyr477Asp | |
| XM_011538731.1:c.1348T>G | XP_011537033.1:p.Tyr450Asp | |
| XM_006719593.3:c.1429T>G | XP_006719656.1:p.Tyr477Asp | |
| XM_011538731.2:c.1348T>G | XP_011537033.1:p.Tyr450Asp | |
| XM_017019961.1:c.1213T>G | XP_016875450.1:p.Tyr405Asp | |
| XM_017019962.2:c.202T>G | XP_016875451.1:p.Tyr68Asp | |
| NM_024312.5:c.1429T>G MANE Select | NP_077288.2:p.Tyr477Asp |