Linked Data
dbSNP Id:
rs1173697304
gnomAD v2:
1-68895532-A-C
gnomAD v3:
1-68429849-A-C
gnomAD v4:
1-68429849-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.68429849A>C , CM000663.2:g.68429849A>C | GRCh38 |
| NC_000001.10:g.68895532A>C , CM000663.1:g.68895532A>C | GRCh37 |
| NC_000001.9:g.68668120A>C | NCBI36 |
| NG_008472.1:g.25111T>G | |
| NG_008472.2:g.25111T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262340.6:c.1529T>G MANE Select | ENSP00000262340.5:p.Leu510Ter | |
| ENST00000262340.5:c.1529T>G | ENSP00000262340.5:p.Leu510Ter | |
| NM_000329.2:c.1529T>G | NP_000320.1:p.Leu510Ter | |
| XM_017002027.1:c.1253T>G | XP_016857516.1:p.Leu418Ter | |
| NM_000329.3:c.1529T>G MANE Select | NP_000320.1:p.Leu510Ter |