Linked Data
dbSNP Id:
rs770506876
ExAC:
12:52306281 A / C
gnomAD v2:
12-52306281-A-C
gnomAD v4:
12-51912497-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51912497A>C , CM000674.2:g.51912497A>C | GRCh38 |
| NC_000012.11:g.52306281A>C , CM000674.1:g.52306281A>C | GRCh37 |
| NC_000012.10:g.50592548A>C | NCBI36 |
| NG_009549.1:g.10080A>C , LRG_543:g.10080A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.65A>C | ENSP00000446724.2:p.Lys22Thr | |
| ENST00000551576.6:c.23A>C | ENSP00000455848.2:p.Lys8Thr | |
| ENST00000552678.2:c.23A>C | ENSP00000457394.2:p.Lys8Thr | |
| ENST00000388922.9:c.23A>C MANE Select | ENSP00000373574.4:p.Lys8Thr | |
| ENST00000388922.8:c.23A>C | ENSP00000373574.4:p.Lys8Thr | |
| ENST00000419526.6:c.65A>C | ENSP00000392492.2:p.Lys22Thr | |
| ENST00000547400.5:c.65A>C | ENSP00000446724.1:p.Lys22Thr | |
| ENST00000550683.5:c.65A>C | ENSP00000447884.1:p.Lys22Thr | |
| ENST00000551576.5:c.23A>C | ENSP00000455848.1:p.Lys8Thr | |
| NM_000020.2:c.23A>C , LRG_543t1:c.23A>C | NP_000011.2:p.Lys8Thr | |
| NM_001077401.1:c.23A>C | NP_001070869.1:p.Lys8Thr | |
| XM_005269235.2:c.23A>C | XP_005269292.1:p.Lys8Thr | |
| XM_011539008.1:c.65A>C | XP_011537310.1:p.Lys22Thr | |
| NM_000020.3:c.23A>C MANE Select | NP_000011.2:p.Lys8Thr | |
| NM_001077401.2:c.23A>C | NP_001070869.1:p.Lys8Thr |