Linked Data
dbSNP Id:
rs555288791
gnomAD v2:
3-10192046-G-C
gnomAD v3:
3-10150362-G-C
gnomAD v4:
3-10150362-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10150362G>C , CM000665.2:g.10150362G>C | GRCh38 |
| NC_000003.11:g.10192046G>C , CM000665.1:g.10192046G>C | GRCh37 |
| NC_000003.10:g.10167046G>C | NCBI36 |
| NG_008212.3:g.13728G>C , LRG_322:g.13728G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*716G>C | ENSP00000512434.1:n.*716G>C | |
| ENST00000696143.1:c.1175G>C | ENSP00000512435.1:n.1175G>C | |
| ENST00000696153.1:c.*397G>C | ENSP00000512444.1:n.*397G>C | |
| ENST00000256474.3:c.*397G>C MANE Select | ENSP00000256474.3:n.*397G>C | |
| ENST00000256474.2:c.*397G>C | ENSP00000256474.2:n.*397G>C | |
| ENST00000345392.2:c.*397G>C | ENSP00000344757.2:n.*397G>C | |
| NM_000551.3:c.*397G>C , LRG_322t1:c.*397G>C | NP_000542.1:n.*397G>C | |
| NM_198156.2:c.*397G>C | NP_937799.1:n.*397G>C | |
| NM_001354723.1:c.*593G>C | NP_001341652.1:n.*593G>C | |
| NM_000551.4:c.*397G>C MANE Select | NP_000542.1:n.*397G>C | |
| NM_001354723.2:c.*593G>C | NP_001341652.1:n.*593G>C | |
| NM_198156.3:c.*397G>C | NP_937799.1:n.*397G>C |