Linked Data
dbSNP Id:
rs764409240
ExAC:
4:52894200 A / G
gnomAD v2:
4-52894200-A-G
gnomAD v4:
4-52028034-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.52028034A>G , CM000666.2:g.52028034A>G | GRCh38 |
| NC_000004.11:g.52894200A>G , CM000666.1:g.52894200A>G | GRCh37 |
| NC_000004.10:g.52588957A>G | NCBI36 |
| NG_008891.1:g.15286T>C , LRG_204:g.15286T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000381431.10:c.687T>C MANE Select | ENSP00000370839.6:p.Asn229= | |
| ENST00000381431.9:c.687T>C | ENSP00000370839.5:p.Asn229= | |
| NM_000232.4:c.687T>C , LRG_204t1:c.687T>C | NP_000223.1:p.Asn229= | |
| XM_006714049.2:c.390T>C | XP_006714112.1:p.Asn130= | |
| XM_011534403.1:c.477T>C | XP_011532705.1:p.Asn159= | |
| XM_011534404.1:c.390T>C | XP_011532706.1:p.Asn130= | |
| NM_000232.5:c.687T>C MANE Select | NP_000223.1:p.Asn229= |