Linked Data
ClinVar Variation Id:
309482
ClinVar RCV Id:
RCV000397586
dbSNP Id:
rs573540605
gnomAD v2:
12-52317024-A-C
gnomAD v3:
12-51923240-A-C
gnomAD v4:
12-51923240-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51923240A>C , CM000674.2:g.51923240A>C | GRCh38 |
| NC_000012.11:g.52317024A>C , CM000674.1:g.52317024A>C | GRCh37 |
| NC_000012.10:g.50603291A>C | NCBI36 |
| NG_009549.1:g.20823A>C , LRG_543:g.20823A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551576.6:c.*2347A>C | ENSP00000455848.2:n.*2347A>C | |
| ENST00000388922.9:c.*2347A>C MANE Select | ENSP00000373574.4:n.*2347A>C | |
| ENST00000550084.1:n.277A>C | ||
| ENST00000550683.5:c.*2347A>C | ENSP00000447884.1:n.*2347A>C | |
| NM_000020.2:c.*2347A>C , LRG_543t1:c.*2347A>C | NP_000011.2:n.*2347A>C | |
| NM_001077401.1:c.*2347A>C | NP_001070869.1:n.*2347A>C | |
| XM_005269235.2:c.*2347A>C | XP_005269292.1:n.*2347A>C | |
| XM_011539008.1:c.*2347A>C | XP_011537310.1:n.*2347A>C | |
| XM_024449279.1:c.*2347A>C | XP_024305047.1:n.*2347A>C | |
| NM_000020.3:c.*2347A>C MANE Select | NP_000011.2:n.*2347A>C | |
| NM_001077401.2:c.*2347A>C | NP_001070869.1:n.*2347A>C |