Linked Data
ClinVar Variation Id:
359600
ClinVar RCV Id:
RCV000345115
dbSNP Id:
rs747087320
ExAC:
7:21599373 T / C
gnomAD v2:
7-21599373-T-C
gnomAD v3:
7-21559755-T-C
gnomAD v4:
7-21559755-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.21559755T>C , CM000669.2:g.21559755T>C | GRCh38 |
| NC_000007.13:g.21599373T>C , CM000669.1:g.21599373T>C | GRCh37 |
| NC_000007.12:g.21565898T>C | NCBI36 |
| NG_012886.2:g.21541T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409508.8:c.845T>C MANE Select | ENSP00000475939.1:p.Met282Thr | |
| ENST00000328843.10:c.845T>C | ENSP00000330671.7:p.Met282Thr | |
| ENST00000409508.7:c.845T>C | ENSP00000475939.1:p.Met282Thr | |
| ENST00000483691.1:n.41T>C | ||
| ENST00000620169.4:c.845T>C | ENSP00000481693.1:p.Met282Thr | |
| NM_001277115.1:c.845T>C | NP_001264044.1:p.Met282Thr | |
| NM_001277115.2:c.845T>C MANE Select | NP_001264044.1:p.Met282Thr |