Linked Data
dbSNP Id:
rs751806358
ExAC:
17:61566138 C / T
gnomAD v2:
17-61566138-C-T
gnomAD v4:
17-63488777-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.63488777C>T , CM000679.2:g.63488777C>T | GRCh38 |
| NC_000017.10:g.61566138C>T , CM000679.1:g.61566138C>T | GRCh37 |
| NC_000017.9:g.58919870C>T | NCBI36 |
| NG_011648.1:g.16705C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290866.10:c.2435C>T MANE Select | ENSP00000290866.4:p.Ala812Val | |
| ENST00000290863.10:c.713C>T | ENSP00000290863.6:p.Ala238Val | |
| ENST00000290866.9:c.2435C>T | ENSP00000290866.4:p.Ala812Val | |
| ENST00000413513.7:c.713C>T | ENSP00000392247.3:p.Ala238Val | |
| ENST00000428043.5:c.2435C>T | ENSP00000397593.2:p.Ala812Val | |
| ENST00000577647.2:c.713C>T | ENSP00000464149.1:p.Ala238Val | |
| ENST00000578839.5:c.*505C>T | ENSP00000462110.2:n.*505C>T | |
| ENST00000579204.1:c.694C>T | ENSP00000464629.1:n.694C>T | |
| ENST00000579314.5:c.*164C>T | ENSP00000462599.1:n.*164C>T | |
| ENST00000582005.5:c.*355C>T | ENSP00000462002.1:n.*355C>T | |
| ENST00000582761.1:c.203C>T | ENSP00000462909.1:p.Ala68Val | |
| ENST00000584865.5:n.381C>T | ||
| NM_000789.3:c.2435C>T | NP_000780.1:p.Ala812Val | |
| NM_001178057.1:c.713C>T | NP_001171528.1:p.Ala238Val | |
| NM_152830.2:c.713C>T | NP_690043.1:p.Ala238Val | |
| XM_005257110.1:c.1886C>T | XP_005257167.1:p.Ala629Val | |
| XM_006721737.2:c.773C>T | XP_006721800.2:p.Ala258Val | |
| XM_006721737.3:c.773C>T | XP_006721800.2:p.Ala258Val | |
| NM_000789.4:c.2435C>T MANE Select | NP_000780.1:p.Ala812Val | |
| NM_001178057.2:c.713C>T | NP_001171528.1:p.Ala238Val | |
| NM_152830.3:c.713C>T | NP_690043.1:p.Ala238Val | |
| NM_001382700.1:c.1868C>T | NP_001369629.1:p.Ala623Val | |
| NM_001382701.1:c.1583C>T | NP_001369630.1:p.Ala528Val | |
| NM_001382702.1:c.365C>T | NP_001369631.1:p.Ala122Val | |
| NR_168483.1:n.813C>T |