Linked Data
ClinVar Variation Id:
393141
ClinVar RCV Id:
RCV000429672
dbSNP Id:
rs1057524810
gnomAD v2:
3-30732997-G-A
gnomAD v4:
3-30691505-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30691505G>A , CM000665.2:g.30691505G>A | GRCh38 |
| NC_000003.11:g.30732997G>A , CM000665.1:g.30732997G>A | GRCh37 |
| NC_000003.10:g.30708001G>A | NCBI36 |
| NG_007490.1:g.90004G>A , LRG_779:g.90004G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000295754.10:c.1610G>A MANE Select | ENSP00000295754.5:p.Arg537His | |
| ENST00000672050.1:n.494G>A | ||
| ENST00000672866.1:n.3206G>A | ||
| ENST00000673203.1:n.488G>A | ||
| ENST00000295754.9:c.1610G>A | ENSP00000295754.5:p.Arg537His | |
| ENST00000359013.4:c.1685G>A | ENSP00000351905.4:p.Arg562His | |
| NM_001024847.2:c.1685G>A , LRG_779t1:c.1685G>A | NP_001020018.1:p.Arg562His | |
| NM_003242.5:c.1610G>A | NP_003233.4:p.Arg537His | |
| XM_011534043.1:c.1637G>A | XP_011532345.1:p.Arg546His | |
| XM_011534044.1:c.1562G>A | XP_011532346.1:p.Arg521His | |
| XM_011534045.1:c.1505G>A | XP_011532347.1:p.Arg502His | |
| XM_011534043.2:c.1637G>A | XP_011532345.1:p.Arg546His | |
| XM_011534045.3:c.1505G>A | XP_011532347.1:p.Arg502His | |
| XM_017007106.1:c.1505G>A | XP_016862595.1:p.Arg502His | |
| NM_003242.6:c.1610G>A MANE Select | NP_003233.4:p.Arg537His |