Linked Data
ClinVar Variation Id:
162456
dbSNP Id:
rs544436734
ExAC:
13:95230384 A / G
gnomAD v2:
13-95230384-A-G
gnomAD v3:
13-94578130-A-G
gnomAD v4:
13-94578130-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.94578130A>G , CM000675.2:g.94578130A>G | GRCh38 |
| NC_000013.10:g.95230384A>G , CM000675.1:g.95230384A>G | GRCh37 |
| NC_000013.9:g.94028385A>G | NCBI36 |
| NG_041837.1:g.23146T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261296.7:c.700T>C MANE Select | ENSP00000261296.5:p.Tyr234His | |
| ENST00000261296.6:c.700T>C | ENSP00000261296.5:p.Tyr234His | |
| NM_001304430.1:c.604T>C | NP_001291359.1:p.Tyr202His | |
| NM_014305.3:c.700T>C | NP_055120.1:p.Tyr234His | |
| NR_130731.1:n.835T>C | ||
| NR_130732.1:n.748T>C | ||
| XM_011521065.1:c.604T>C | XP_011519367.1:p.Tyr202His | |
| XM_011521066.1:c.604T>C | XP_011519368.1:p.Tyr202His | |
| XM_011521065.2:c.604T>C | XP_011519367.1:p.Tyr202His | |
| XM_011521066.2:c.604T>C | XP_011519368.1:p.Tyr202His | |
| NM_014305.4:c.700T>C MANE Select | NP_055120.1:p.Tyr234His | |
| NM_001304430.2:c.604T>C | NP_001291359.1:p.Tyr202His | |
| NR_130731.2:n.712T>C | ||
| NR_130732.2:n.625T>C |