Linked Data
ClinVar Variation Id:
13524
ClinVar RCV Id:
RCV000014479
dbSNP Id:
rs121918043
PubMed:
PMID:10541293
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.88046854A>T , CM000666.2:g.88046854A>T | GRCh38 |
| NC_000004.11:g.88968006A>T , CM000666.1:g.88968006A>T | GRCh37 |
| NC_000004.10:g.89187030A>T | NCBI36 |
| NG_008604.1:g.44187A>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000237596.7:c.1532A>T MANE Select | ENSP00000237596.2:p.Asp511Val | |
| ENST00000237596.6:c.1532A>T | ENSP00000237596.2:p.Asp511Val | |
| ENST00000508588.5:c.-199+3397A>T | ENSP00000427131.1:n.-199+3397A>T | |
| NM_000297.3:c.1532A>T | NP_000288.1:p.Asp511Val | |
| XM_011532028.1:c.1307A>T | XP_011530330.1:p.Asp436Val | |
| XM_011532029.1:c.812A>T | XP_011530331.1:p.Asp271Val | |
| XM_011532030.1:c.692A>T | XP_011530332.1:p.Asp231Val | |
| XR_244632.2:n.1627A>T | ||
| NR_156488.1:n.1619A>T | ||
| XM_011532028.2:c.1307A>T | XP_011530330.1:p.Asp436Val | |
| XM_011532030.2:c.692A>T | XP_011530332.1:p.Asp231Val | |
| NM_000297.4:c.1532A>T MANE Select | NP_000288.1:p.Asp511Val | |
| NR_156488.2:n.1631A>T |