Linked Data
ClinVar Variation Id:
309469
ClinVar RCV Id:
RCV000320372
dbSNP Id:
rs565400159
gnomAD v2:
12-52316170-G-A
gnomAD v3:
12-51922386-G-A
gnomAD v4:
12-51922386-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51922386G>A , CM000674.2:g.51922386G>A | GRCh38 |
| NC_000012.11:g.52316170G>A , CM000674.1:g.52316170G>A | GRCh37 |
| NC_000012.10:g.50602437G>A | NCBI36 |
| NG_009549.1:g.19969G>A , LRG_543:g.19969G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000551576.6:c.*1493G>A | ENSP00000455848.2:n.*1493G>A | |
| ENST00000388922.9:c.*1493G>A MANE Select | ENSP00000373574.4:n.*1493G>A | |
| ENST00000550084.1:n.176+559G>A | ||
| ENST00000550683.5:c.*1493G>A | ENSP00000447884.1:n.*1493G>A | |
| NM_000020.2:c.*1493G>A , LRG_543t1:c.*1493G>A | NP_000011.2:n.*1493G>A | |
| NM_001077401.1:c.*1493G>A | NP_001070869.1:n.*1493G>A | |
| XM_005269235.2:c.*1493G>A | XP_005269292.1:n.*1493G>A | |
| XM_011539008.1:c.*1493G>A | XP_011537310.1:n.*1493G>A | |
| XM_024449279.1:c.*1493G>A | XP_024305047.1:n.*1493G>A | |
| NM_000020.3:c.*1493G>A MANE Select | NP_000011.2:n.*1493G>A | |
| NM_001077401.2:c.*1493G>A | NP_001070869.1:n.*1493G>A |