Linked Data
ClinVar Variation Id:
446066
ClinVar RCV Id:
RCV000514637
dbSNP Id:
rs143676012
ExAC:
3:53265417 T / G
gnomAD v2:
3-53265417-T-G
gnomAD v3:
3-53231401-T-G
gnomAD v4:
3-53231401-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.53231401T>G , CM000665.2:g.53231401T>G | GRCh38 |
| NC_000003.11:g.53265417T>G , CM000665.1:g.53265417T>G | GRCh37 |
| NC_000003.10:g.53240457T>G | NCBI36 |
| NG_027815.1:g.29714A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000462138.6:c.898A>C MANE Select | ENSP00000417773.1:p.Asn300His | |
| ENST00000296289.10:c.400A>C | ENSP00000296289.7:p.Asn134His | |
| ENST00000423516.5:c.922A>C | ENSP00000391481.1:p.Asn308His | |
| ENST00000423525.6:c.898A>C | ENSP00000405455.2:p.Asn300His | |
| ENST00000450814.6:c.*326A>C | ENSP00000413503.2:n.*326A>C | |
| ENST00000460343.5:n.4207A>C | ||
| ENST00000461139.5:n.899A>C | ||
| ENST00000462138.5:c.898A>C | ENSP00000417773.1:p.Asn300His | |
| ENST00000469678.1:c.898A>C | ENSP00000418340.1:p.Asn300His | |
| NM_001064.3:c.898A>C | NP_001055.1:p.Asn300His | |
| NM_001135055.2:c.898A>C | NP_001128527.1:p.Asn300His | |
| NM_001258028.1:c.922A>C | NP_001244957.1:p.Asn308His | |
| NR_047580.1:n.960A>C | ||
| XM_011534054.1:c.922A>C | XP_011532356.1:p.Asn308His | |
| XM_011534055.1:c.400A>C | XP_011532357.1:p.Asn134His | |
| XM_011534055.2:c.400A>C | XP_011532357.1:p.Asn134His | |
| NM_001064.4:c.898A>C MANE Select | NP_001055.1:p.Asn300His | |
| NM_001135055.3:c.898A>C | NP_001128527.1:p.Asn300His | |
| NM_001258028.2:c.922A>C | NP_001244957.1:p.Asn308His | |
| NR_047580.2:n.868A>C |