Linked Data
ClinVar Variation Id:
410295
dbSNP Id:
rs757110526
ExAC:
7:813777 C / T
gnomAD v2:
7-813777-C-T
gnomAD v3:
7-774140-C-T
gnomAD v4:
7-774140-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.774140C>T , CM000669.2:g.774140C>T | GRCh38 |
| NC_000007.13:g.813777C>T , CM000669.1:g.813777C>T | GRCh37 |
| NC_000007.12:g.780303C>T | NCBI36 |
| NG_033137.1:g.52440C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297440.11:c.2024C>T MANE Select | ENSP00000297440.6:p.Thr675Met | |
| ENST00000297440.10:c.2024C>T | ENSP00000297440.6:p.Thr675Met | |
| ENST00000403952.3:c.299C>T | ENSP00000384884.3:p.Thr100Met | |
| ENST00000440747.5:c.1428C>T | ||
| NM_017802.3:c.2024C>T | NP_060272.3:p.Thr675Met | |
| NR_075098.1:n.1982C>T | ||
| XM_024446813.1:c.2024C>T | XP_024302581.1:p.Thr675Met | |
| XM_024446814.1:c.1418C>T | XP_024302582.1:p.Thr473Met | |
| NM_017802.4:c.2024C>T MANE Select | NP_060272.3:p.Thr675Met | |
| NR_075098.2:n.1984C>T |