Linked Data
dbSNP Id:
rs200279465
ExAC:
12:5153882 A / C
gnomAD v2:
12-5153882-A-C
gnomAD v4:
12-5044716-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5044716A>C , CM000674.2:g.5044716A>C | GRCh38 |
| NC_000012.11:g.5153882A>C , CM000674.1:g.5153882A>C | GRCh37 |
| NC_000012.10:g.5024143A>C | NCBI36 |
| NG_012198.1:g.5798A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.569A>C MANE Select | ENSP00000252321.3:p.Asn190Thr | |
| ENST00000252321.4:c.569A>C | ENSP00000252321.3:p.Asn190Thr | |
| NM_002234.3:c.569A>C | NP_002225.2:p.Asn190Thr | |
| NM_002234.4:c.569A>C MANE Select | NP_002225.2:p.Asn190Thr |