Linked Data
dbSNP Id:
rs758021929
ExAC:
16:28912235 A / G
gnomAD v2:
16-28912235-A-G
gnomAD v4:
16-28900914-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28900914A>G , CM000678.2:g.28900914A>G | GRCh38 |
| NC_000016.9:g.28912235A>G , CM000678.1:g.28912235A>G | GRCh37 |
| NC_000016.8:g.28819736A>G | NCBI36 |
| NG_023327.1:g.27427A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000395503.9:c.2098A>G MANE Select | ENSP00000378879.5:p.Met700Val | |
| ENST00000357084.7:c.2098A>G | ENSP00000349595.3:p.Met700Val | |
| ENST00000395503.8:c.2098A>G | ENSP00000378879.4:p.Met700Val | |
| ENST00000536376.5:c.1723A>G | ENSP00000443101.1:p.Met575Val | |
| NM_001286075.1:c.1723A>G | NP_001273004.1:p.Met575Val | |
| NM_004320.4:c.2098A>G | NP_004311.1:p.Met700Val | |
| NM_173201.3:c.2098A>G | NP_775293.1:p.Met700Val | |
| NM_004320.6:c.2098A>G MANE Select | NP_004311.1:p.Met700Val | |
| NM_173201.4:c.2098A>G | NP_775293.1:p.Met700Val | |
| NM_001286075.2:c.1723A>G | NP_001273004.1:p.Met575Val | |
| NM_173201.5:c.2098A>G | NP_775293.1:p.Met700Val |