Linked Data
ClinVar Variation Id:
860531
dbSNP Id:
rs1365759588
gnomAD v2:
9-133355825-T-C
gnomAD v4:
9-130480438-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130480438T>C , CM000671.2:g.130480438T>C | GRCh38 |
| NC_000009.11:g.133355825T>C , CM000671.1:g.133355825T>C | GRCh37 |
| NC_000009.10:g.132345646T>C | NCBI36 |
| NG_011542.1:g.40732T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000352480.10:c.827T>C MANE Select | ENSP00000253004.6:p.Met276Thr | |
| ENST00000352480.9:c.827T>C | ENSP00000253004.6:p.Met276Thr | |
| ENST00000372386.6:n.98T>C | ||
| ENST00000372393.7:c.827T>C | ENSP00000361469.2:p.Met276Thr | |
| ENST00000372394.5:c.827T>C | ENSP00000361471.1:p.Met276Thr | |
| ENST00000470849.4:n.552T>C | ||
| ENST00000492400.5:n.336T>C | ||
| ENST00000493984.6:n.604T>C | ||
| NM_000050.4:c.827T>C | NP_000041.2:p.Met276Thr | |
| NM_054012.3:c.827T>C | NP_446464.1:p.Met276Thr | |
| XM_005272200.2:c.827T>C | XP_005272257.1:p.Met276Thr | |
| XM_011518705.1:c.941T>C | XP_011517007.1:p.Met314Thr | |
| XM_005272200.3:c.827T>C | XP_005272257.1:p.Met276Thr | |
| XM_011518705.2:c.941T>C | XP_011517007.1:p.Met314Thr | |
| XM_017014729.1:c.923T>C | XP_016870218.1:p.Met308Thr | |
| NM_054012.4:c.827T>C MANE Select | NP_446464.1:p.Met276Thr |