Linked Data
dbSNP Id:
rs200169087
gnomAD v2:
12-52307463-G-C
gnomAD v3:
12-51913679-G-C
gnomAD v4:
12-51913679-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51913679G>C , CM000674.2:g.51913679G>C | GRCh38 |
| NC_000012.11:g.52307463G>C , CM000674.1:g.52307463G>C | GRCh37 |
| NC_000012.10:g.50593730G>C | NCBI36 |
| NG_009549.1:g.11262G>C , LRG_543:g.11262G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.355+329G>C | ENSP00000446724.2:n.355+329G>C | |
| ENST00000551576.6:c.434G>C | ENSP00000455848.2:p.Arg145Pro | |
| ENST00000552678.2:c.434G>C | ENSP00000457394.2:p.Arg145Pro | |
| ENST00000388922.9:c.434G>C MANE Select | ENSP00000373574.4:p.Arg145Pro | |
| ENST00000388922.8:c.434G>C | ENSP00000373574.4:p.Arg145Pro | |
| ENST00000419526.6:c.104-760G>C | ENSP00000392492.2:n.104-760G>C | |
| ENST00000547400.5:c.355+329G>C | ENSP00000446724.1:n.355+329G>C | |
| ENST00000550683.5:c.476G>C | ENSP00000447884.1:p.Arg159Pro | |
| NM_000020.2:c.434G>C , LRG_543t1:c.434G>C | NP_000011.2:p.Arg145Pro | |
| NM_001077401.1:c.434G>C | NP_001070869.1:p.Arg145Pro | |
| XM_005269235.2:c.434G>C | XP_005269292.1:p.Arg145Pro | |
| XM_011539008.1:c.355+329G>C | XP_011537310.1:n.355+329G>C | |
| XM_024449279.1:c.-256G>C | XP_024305047.1:n.-256G>C | |
| NM_000020.3:c.434G>C MANE Select | NP_000011.2:p.Arg145Pro | |
| NM_001077401.2:c.434G>C | NP_001070869.1:p.Arg145Pro |