Linked Data
dbSNP Id:
rs1484658615
gnomAD v2:
16-31473922-G-A
gnomAD v3:
16-31462601-G-A
gnomAD v4:
16-31462601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31462601G>A , CM000678.2:g.31462601G>A | GRCh38 |
| NC_000016.9:g.31473922G>A , CM000678.1:g.31473922G>A | GRCh37 |
| NC_000016.8:g.31381423G>A | NCBI36 |
| NG_034258.1:g.9329G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000268314.9:c.1054G>A MANE Select | ENSP00000268314.4:p.Val352Met | |
| ENST00000268314.8:c.1054G>A | ENSP00000268314.4:p.Val352Met | |
| ENST00000408912.7:c.1339G>A | ENSP00000386125.3:p.Val447Met | |
| ENST00000457010.6:c.1054G>A | ENSP00000399561.2:p.Val352Met | |
| ENST00000538189.5:c.562G>A | ENSP00000443995.2:p.Val188Met | |
| ENST00000563544.5:c.1054G>A | ENSP00000456877.1:p.Val352Met | |
| ENST00000564900.1:c.213-171G>A | ||
| NM_001105247.1:c.1054G>A | NP_001098717.1:p.Val352Met | |
| NM_001288767.1:c.1339G>A | NP_001275696.1:p.Val447Met | |
| NM_001301820.1:c.1150G>A | NP_001288749.1:p.Val384Met | |
| NM_024742.2:c.1054G>A | NP_079018.1:p.Val352Met | |
| XM_006721091.1:c.1150G>A | XP_006721154.1:p.Val384Met | |
| XM_006721091.3:c.1150G>A | XP_006721154.1:p.Val384Met | |
| XM_024450448.1:c.1150G>A | XP_024306216.1:p.Val384Met | |
| XM_024450449.1:c.1150G>A | XP_024306217.1:p.Val384Met | |
| NM_001105247.2:c.1054G>A MANE Select | NP_001098717.1:p.Val352Met | |
| NM_001288767.2:c.1339G>A | NP_001275696.1:p.Val447Met |