Linked Data
ClinVar Variation Id:
99972
ClinVar RCV Id:
RCV000086422
dbSNP Id:
rs151344616
ExAC:
7:150884019 C / T
gnomAD v2:
7-150884019-C-T
gnomAD v3:
7-151186932-C-T
gnomAD v4:
7-151186932-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.151186932C>T , CM000669.2:g.151186932C>T | GRCh38 |
| NC_000007.13:g.150884019C>T , CM000669.1:g.150884019C>T | GRCh37 |
| NC_000007.12:g.150514952C>T | NCBI36 |
| NG_017016.1:g.5901G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420175.3:c.199G>A MANE Select | ENSP00000391137.2:p.Val67Met | |
| ENST00000275838.5:c.199G>A | ENSP00000275838.1:p.Val67Met | |
| ENST00000377867.7:c.272-273G>A | ENSP00000367098.3:n.272-273G>A | |
| ENST00000415615.1:c.*243G>A | ENSP00000410871.1:n.*243G>A | |
| ENST00000420175.2:c.199G>A | ENSP00000391137.2:p.Val67Met | |
| NM_001142459.1:c.199G>A | NP_001135931.2:p.Val67Met | |
| NM_001142460.1:c.199G>A | NP_001135932.2:p.Val67Met | |
| NM_080871.3:c.272-273G>A | NP_543147.2:n.272-273G>A | |
| XM_005249949.3:c.334G>A | XP_005250006.1:p.Val112Met | |
| NM_001142459.2:c.199G>A MANE Select | NP_001135931.2:p.Val67Met | |
| NM_080871.4:c.272-273G>A | NP_543147.2:n.272-273G>A |