Linked Data
ClinVar Variation Id:
1417428
ClinVar RCV Id:
RCV001938361
dbSNP Id:
rs375505960
ExAC:
17:7357733 T / C
gnomAD v2:
17-7357733-T-C
gnomAD v3:
17-7454414-T-C
gnomAD v4:
17-7454414-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7454414T>C , CM000679.2:g.7454414T>C | GRCh38 |
| NC_000017.10:g.7357733T>C , CM000679.1:g.7357733T>C | GRCh37 |
| NC_000017.9:g.7298457T>C | NCBI36 |
| NG_008026.1:g.14328T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306071.7:c.938T>C MANE Select | ENSP00000304290.2:p.Met313Thr | |
| ENST00000306071.6:c.938T>C | ENSP00000304290.2:p.Met313Thr | |
| ENST00000536404.6:c.722T>C | ENSP00000439209.2:p.Met241Thr | |
| ENST00000570557.5:c.601T>C | ||
| ENST00000573209.1:n.1882T>C | ||
| ENST00000576360.1:c.605-30T>C | ENSP00000459092.1:n.605-30T>C | |
| NM_000747.2:c.938T>C | NP_000738.2:p.Met313Thr | |
| NM_000747.3:c.938T>C MANE Select | NP_000738.2:p.Met313Thr |