Linked Data
ClinVar Variation Id:
2581414
ClinVar RCV Id:
RCV003331819
dbSNP Id:
rs1250895424
gnomAD v2:
9-133364849-C-T
gnomAD v4:
9-130489462-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130489462C>T , CM000671.2:g.130489462C>T | GRCh38 |
| NC_000009.11:g.133364849C>T , CM000671.1:g.133364849C>T | GRCh37 |
| NC_000009.10:g.132354670C>T | NCBI36 |
| NG_011542.1:g.49756C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.968C>T MANE Select | ENSP00000253004.6:p.Thr323Ile | |
| ENST00000352480.9:c.968C>T | ENSP00000253004.6:p.Thr323Ile | |
| ENST00000372386.6:n.239C>T | ||
| ENST00000372393.7:c.968C>T | ENSP00000361469.2:p.Thr323Ile | |
| ENST00000372394.5:c.968C>T | ENSP00000361471.1:p.Thr323Ile | |
| NM_000050.4:c.968C>T | NP_000041.2:p.Thr323Ile | |
| NM_054012.3:c.968C>T | NP_446464.1:p.Thr323Ile | |
| XM_005272200.2:c.968C>T | XP_005272257.1:p.Thr323Ile | |
| XM_011518705.1:c.1082C>T | XP_011517007.1:p.Thr361Ile | |
| XM_005272200.3:c.968C>T | XP_005272257.1:p.Thr323Ile | |
| XM_011518705.2:c.1082C>T | XP_011517007.1:p.Thr361Ile | |
| XM_017014729.1:c.1064C>T | XP_016870218.1:p.Thr355Ile | |
| NM_054012.4:c.968C>T MANE Select | NP_446464.1:p.Thr323Ile |