Linked Data
ClinVar Variation Id:
1565513
ClinVar RCV Id:
RCV002218352
dbSNP Id:
rs764080716
gnomAD v4:
12-51916043-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51916043T>C , CM000674.2:g.51916043T>C | GRCh38 |
| NC_000012.11:g.52309827T>C , CM000674.1:g.52309827T>C | GRCh37 |
| NC_000012.10:g.50596094T>C | NCBI36 |
| NG_009549.1:g.13626T>C , LRG_543:g.13626T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.786T>C | ENSP00000446724.2:p.Ala262= | |
| ENST00000551576.6:c.1056T>C | ENSP00000455848.2:p.Ala352= | |
| ENST00000552678.2:c.1056T>C | ENSP00000457394.2:p.Ala352= | |
| ENST00000388922.9:c.1056T>C MANE Select | ENSP00000373574.4:p.Ala352= | |
| ENST00000388922.8:c.1056T>C | ENSP00000373574.4:p.Ala352= | |
| ENST00000419526.6:c.534T>C | ENSP00000392492.2:p.Ala178= | |
| ENST00000547632.1:n.331T>C | ||
| ENST00000550683.5:c.1098T>C | ENSP00000447884.1:p.Ala366= | |
| ENST00000552678.1:c.61T>C | ||
| NM_000020.2:c.1056T>C , LRG_543t1:c.1056T>C | NP_000011.2:p.Ala352= | |
| NM_001077401.1:c.1056T>C | NP_001070869.1:p.Ala352= | |
| XM_005269235.2:c.1056T>C | XP_005269292.1:p.Ala352= | |
| XM_011539008.1:c.786T>C | XP_011537310.1:p.Ala262= | |
| XM_024449279.1:c.267T>C | XP_024305047.1:p.Ala89= | |
| NM_000020.3:c.1056T>C MANE Select | NP_000011.2:p.Ala352= | |
| NM_001077401.2:c.1056T>C | NP_001070869.1:p.Ala352= |