Linked Data
dbSNP Id:
rs745751309
ExAC:
15:90631620 C / T
gnomAD v2:
15-90631620-C-T
gnomAD v3:
15-90088388-C-T
gnomAD v4:
15-90088388-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90088388C>T , CM000677.2:g.90088388C>T | GRCh38 |
| NC_000015.9:g.90631620C>T , CM000677.1:g.90631620C>T | GRCh37 |
| NC_000015.8:g.88432624C>T | NCBI36 |
| NG_023302.1:g.19089G>A , LRG_611:g.19089G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330062.8:c.649G>A MANE Select | ENSP00000331897.4:p.Val217Met | |
| ENST00000330062.7:c.649G>A | ENSP00000331897.3:p.Val217Met | |
| ENST00000540499.2:c.493G>A | ENSP00000446147.2:p.Val165Met | |
| ENST00000559482.5:c.322G>A | ENSP00000453016.1:p.Val108Met | |
| ENST00000560061.1:c.*274G>A | ENSP00000453254.1:n.*274G>A | |
| NM_001289910.1:c.493G>A , LRG_611t1:c.493G>A | NP_001276839.1:p.Val165Met | |
| NM_001290114.1:c.259G>A | NP_001277043.1:p.Val87Met | |
| NM_002168.3:c.649G>A , LRG_611t2:c.649G>A | NP_002159.2:p.Val217Met | |
| NM_001290114.2:c.259G>A | NP_001277043.1:p.Val87Met | |
| NM_002168.4:c.649G>A MANE Select | NP_002159.2:p.Val217Met |