Linked Data
ClinVar Variation Id:
498836
dbSNP Id:
rs567165324
ExAC:
11:45937351 C / T
gnomAD v2:
11-45937351-C-T
gnomAD v3:
11-45915800-C-T
gnomAD v4:
11-45915800-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.45915800C>T , CM000673.2:g.45915800C>T | GRCh38 |
| NC_000011.9:g.45937351C>T , CM000673.1:g.45937351C>T | GRCh37 |
| NC_000011.8:g.45893927C>T | NCBI36 |
| NG_008460.1:g.7324G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378750.10:c.262G>A MANE Select | ENSP00000368024.5:p.Val88Met | |
| ENST00000241041.7:c.262G>A | ENSP00000241041.3:p.Val88Met | |
| ENST00000378750.9:c.262G>A | ENSP00000368024.5:p.Val88Met | |
| ENST00000525192.5:c.-24G>A | ENSP00000431309.1:n.-24G>A | |
| ENST00000525229.5:c.*215G>A | ENSP00000431132.1:n.*215G>A | |
| ENST00000528674.5:c.*161G>A | ENSP00000434060.1:n.*161G>A | |
| ENST00000529030.1:c.*247G>A | ENSP00000432486.1:n.*247G>A | |
| ENST00000532554.5:n.131-232G>A | ||
| ENST00000532681.5:c.-24G>A | ENSP00000434654.1:n.-24G>A | |
| ENST00000533151.5:c.149-1116G>A | ENSP00000433045.1:n.149-1116G>A | |
| NM_004813.2:c.262G>A | NP_004804.1:p.Val88Met | |
| NM_057174.2:c.262G>A | NP_476515.1:p.Val88Met | |
| XM_011520474.1:c.139G>A | XP_011518776.1:p.Val47Met | |
| NM_004813.3:c.262G>A | NP_004804.1:p.Val88Met | |
| NM_004813.4:c.262G>A MANE Select | NP_004804.2:p.Val88Met | |
| NM_057174.3:c.262G>A | NP_476515.2:p.Val88Met |