Linked Data
ClinVar Variation Id:
1144848
ClinVar RCV Id:
RCV001483500
dbSNP Id:
rs750851227
ExAC:
9:133364847 T / C
gnomAD v2:
9-133364847-T-C
gnomAD v3:
9-130489460-T-C
gnomAD v4:
9-130489460-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489460T>C , CM000671.2:g.130489460T>C | GRCh38 |
| NC_000009.11:g.133364847T>C , CM000671.1:g.133364847T>C | GRCh37 |
| NC_000009.10:g.132354668T>C | NCBI36 |
| NG_011542.1:g.49754T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.966T>C MANE Select | ENSP00000253004.6:p.Tyr322= | |
| ENST00000352480.9:c.966T>C | ENSP00000253004.6:p.Tyr322= | |
| ENST00000372386.6:n.237T>C | ||
| ENST00000372393.7:c.966T>C | ENSP00000361469.2:p.Tyr322= | |
| ENST00000372394.5:c.966T>C | ENSP00000361471.1:p.Tyr322= | |
| NM_000050.4:c.966T>C | NP_000041.2:p.Tyr322= | |
| NM_054012.3:c.966T>C | NP_446464.1:p.Tyr322= | |
| XM_005272200.2:c.966T>C | XP_005272257.1:p.Tyr322= | |
| XM_011518705.1:c.1080T>C | XP_011517007.1:p.Tyr360= | |
| XM_005272200.3:c.966T>C | XP_005272257.1:p.Tyr322= | |
| XM_011518705.2:c.1080T>C | XP_011517007.1:p.Tyr360= | |
| XM_017014729.1:c.1062T>C | XP_016870218.1:p.Tyr354= | |
| NM_054012.4:c.966T>C MANE Select | NP_446464.1:p.Tyr322= |