Linked Data
dbSNP Id:
rs904445713
gnomAD v2:
3-10191866-G-C
gnomAD v3:
3-10150182-G-C
gnomAD v4:
3-10150182-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150182G>C , CM000665.2:g.10150182G>C | GRCh38 |
| NC_000003.11:g.10191866G>C , CM000665.1:g.10191866G>C | GRCh37 |
| NC_000003.10:g.10166866G>C | NCBI36 |
| NG_008212.3:g.13548G>C , LRG_322:g.13548G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*536G>C | ENSP00000512434.1:n.*536G>C | |
| ENST00000696143.1:c.995G>C | ENSP00000512435.1:n.995G>C | |
| ENST00000696153.1:c.*217G>C | ENSP00000512444.1:n.*217G>C | |
| ENST00000256474.3:c.*217G>C MANE Select | ENSP00000256474.3:n.*217G>C | |
| ENST00000256474.2:c.*217G>C | ENSP00000256474.2:n.*217G>C | |
| ENST00000345392.2:c.*217G>C | ENSP00000344757.2:n.*217G>C | |
| NM_000551.3:c.*217G>C , LRG_322t1:c.*217G>C | NP_000542.1:n.*217G>C | |
| NM_198156.2:c.*217G>C | NP_937799.1:n.*217G>C | |
| NM_001354723.1:c.*413G>C | NP_001341652.1:n.*413G>C | |
| NM_000551.4:c.*217G>C MANE Select | NP_000542.1:n.*217G>C | |
| NM_001354723.2:c.*413G>C | NP_001341652.1:n.*413G>C | |
| NM_198156.3:c.*217G>C | NP_937799.1:n.*217G>C |