Linked Data
dbSNP Id:
rs760968151
ExAC:
1:59248227 G / C
gnomAD v2:
1-59248227-G-C
gnomAD v4:
1-58782555-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.58782555G>C , CM000663.2:g.58782555G>C | GRCh38 |
| NC_000001.10:g.59248227G>C , CM000663.1:g.59248227G>C | GRCh37 |
| NC_000001.9:g.59020815G>C | NCBI36 |
| NG_047027.1:g.6559C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710273.1:c.582C>G | ENSP00000518166.1:p.Asn194Lys | |
| ENST00000371222.4:c.516C>G MANE Select | ENSP00000360266.2:p.Asn172Lys | |
| ENST00000678696.1:c.516C>G | ENSP00000503132.1:p.Asn172Lys | |
| ENST00000371222.3:c.516C>G | ENSP00000360266.2:p.Asn172Lys | |
| NM_002228.3:c.516C>G | NP_002219.1:p.Asn172Lys | |
| NM_002228.4:c.516C>G MANE Select | NP_002219.1:p.Asn172Lys |