MyVariant.info:
GRCh37
chr12:g.52314615C>A
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.51920831C>A , CM000674.2:g.51920831C>A | GRCh38 |
| NC_000012.11:g.52314615C>A , CM000674.1:g.52314615C>A | GRCh37 |
| NC_000012.10:g.50600882C>A | NCBI36 |
| NG_009549.1:g.18414C>A , LRG_543:g.18414C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000547400.6:c.1180C>A | ENSP00000446724.2:p.Arg394= | |
| ENST00000551576.6:c.1450C>A | ENSP00000455848.2:p.Arg484= | |
| ENST00000388922.9:c.1450C>A MANE Select | ENSP00000373574.4:p.Arg484= | |
| ENST00000388922.8:c.1450C>A | ENSP00000373574.4:p.Arg484= | |
| ENST00000419526.6:c.928C>A | ENSP00000392492.2:p.Arg310= | |
| ENST00000550683.5:c.1492C>A | ENSP00000447884.1:p.Arg498= | |
| NM_000020.2:c.1450C>A , LRG_543t1:c.1450C>A | NP_000011.2:p.Arg484= | |
| NM_001077401.1:c.1450C>A | NP_001070869.1:p.Arg484= | |
| XM_005269235.2:c.1450C>A | XP_005269292.1:p.Arg484= | |
| XM_011539008.1:c.1180C>A | XP_011537310.1:p.Arg394= | |
| XM_024449279.1:c.661C>A | XP_024305047.1:p.Arg221= | |
| NM_000020.3:c.1450C>A MANE Select | NP_000011.2:p.Arg484= | |
| NM_001077401.2:c.1450C>A | NP_001070869.1:p.Arg484= |