Linked Data
dbSNP Id:
rs371592365
ExAC:
20:57599069 C / T
gnomAD v2:
20-57599069-C-T
gnomAD v4:
20-59024014-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.59024014C>T , CM000682.2:g.59024014C>T | GRCh38 |
| NC_000020.10:g.57599069C>T , CM000682.1:g.57599069C>T | GRCh37 |
| NC_000020.9:g.57032464C>T | NCBI36 |
| NG_023424.2:g.9761C>T , LRG_581:g.9761C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217133.2:c.587C>T MANE Select | ENSP00000217133.1:p.Ala196Val | |
| ENST00000217133.1:c.587C>T | ENSP00000217133.1:p.Ala196Val | |
| NM_030773.3:c.587C>T , LRG_581t1:c.587C>T | NP_110400.1:p.Ala196Val | |
| XM_017028085.1:c.521C>T | XP_016883574.1:p.Ala174Val | |
| NM_030773.4:c.587C>T MANE Select | NP_110400.1:p.Ala196Val |