Linked Data
ClinVar Variation Id:
553505
dbSNP Id:
rs758785463
ExAC:
17:40688633 C / T
gnomAD v2:
17-40688633-C-T
gnomAD v4:
17-42536615-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536615C>T , CM000679.2:g.42536615C>T | GRCh38 |
| NC_000017.10:g.40688633C>T , CM000679.1:g.40688633C>T | GRCh37 |
| NC_000017.9:g.37942159C>T | NCBI36 |
| NG_011552.1:g.5683C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.343C>T MANE Select | ENSP00000225927.1:p.Pro115Ser | |
| ENST00000225927.6:c.343C>T | ENSP00000225927.1:p.Pro115Ser | |
| ENST00000586516.5:c.93C>T | ||
| ENST00000591587.1:c.86C>T | ENSP00000467836.1:p.Ala29Val | |
| NM_000263.3:c.343C>T | NP_000254.2:p.Pro115Ser | |
| XM_006721920.2:c.-400C>T | XP_006721983.1:n.-400C>T | |
| XM_011524840.1:c.-400C>T | XP_011523142.1:n.-400C>T | |
| XM_024450771.1:c.343C>T | XP_024306539.1:p.Pro115Ser | |
| NM_000263.4:c.343C>T MANE Select | NP_000254.2:p.Pro115Ser |