Linked Data
ClinVar Variation Id:
520539
dbSNP Id:
rs754805893
ExAC:
10:112570154 C / T
gnomAD v2:
10-112570154-C-T
gnomAD v3:
10-110810396-C-T
gnomAD v4:
10-110810396-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110810396C>T , CM000672.2:g.110810396C>T | GRCh38 |
| NC_000010.10:g.112570154C>T , CM000672.1:g.112570154C>T | GRCh37 |
| NC_000010.9:g.112560144C>T | NCBI36 |
| NG_021177.1:g.171000C>T , LRG_382:g.171000C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000369519.4:c.1814C>T MANE Select | ENSP00000358532.3:p.Ala605Val | |
| ENST00000369519.3:c.1814C>T | ENSP00000358532.3:p.Ala605Val | |
| NM_001134363.2:c.1814C>T | NP_001127835.2:p.Ala605Val | |
| XM_011539697.1:c.1430C>T | XP_011537999.1:p.Ala477Val | |
| XM_017016103.2:c.1649C>T | XP_016871592.1:p.Ala550Val | |
| XM_017016104.2:c.1430C>T | XP_016871593.1:p.Ala477Val | |
| NM_001134363.3:c.1814C>T MANE Select | NP_001127835.2:p.Ala605Val |