Linked Data
ClinVar Variation Id:
208633
dbSNP Id:
rs779598020
ExAC:
13:24411700 G / C
gnomAD v2:
13-24411700-G-C
gnomAD v3:
13-23837561-G-C
gnomAD v4:
13-23837561-G-C
PubMed:
PMID:27799064
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.23837561G>C , CM000675.2:g.23837561G>C | GRCh38 |
| NC_000013.10:g.24411700G>C , CM000675.1:g.24411700G>C | GRCh37 |
| NC_000013.9:g.23309700G>C | NCBI36 |
| NG_052977.1:g.56888C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000382172.4:c.1534C>G MANE Select | ENSP00000371607.3:p.His512Asp | |
| ENST00000382172.3:c.1534C>G | ENSP00000371607.3:p.His512Asp | |
| NM_005932.3:c.1534C>G | NP_005923.2:p.His512Asp | |
| XM_011535097.1:c.1348C>G | XP_011533399.1:p.His450Asp | |
| XM_011535098.1:c.1534C>G | XP_011533400.1:p.His512Asp | |
| XM_011535097.2:c.1348C>G | XP_011533399.1:p.His450Asp | |
| XM_011535098.3:c.1534C>G | XP_011533400.1:p.His512Asp | |
| NM_005932.4:c.1534C>G MANE Select | NP_005923.3:p.His512Asp |