Linked Data
dbSNP Id:
rs748074025
ExAC:
11:72423576 C / T
gnomAD v2:
11-72423576-C-T
gnomAD v3:
11-72712531-C-T
gnomAD v4:
11-72712531-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.72712531C>T , CM000673.2:g.72712531C>T | GRCh38 |
| NC_000011.9:g.72423576C>T , CM000673.1:g.72423576C>T | GRCh37 |
| NC_000011.8:g.72101224C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000393609.8:c.785G>A MANE Select | ENSP00000377233.3:p.Arg262His | |
| ENST00000334211.12:c.50G>A | ENSP00000335506.8:p.Arg17His | |
| ENST00000359373.9:c.785G>A | ENSP00000352332.5:p.Arg262His | |
| ENST00000393605.7:c.65G>A | ENSP00000377230.3:p.Arg22His | |
| ENST00000393609.7:c.785G>A | ENSP00000377233.3:p.Arg262His | |
| ENST00000426523.5:c.50G>A | ENSP00000392264.1:p.Arg17His | |
| ENST00000429686.5:c.50G>A | ENSP00000403127.1:p.Arg17His | |
| ENST00000465814.5:n.1122G>A | ||
| NM_001040118.2:c.785G>A | NP_001035207.1:p.Arg262His | |
| NM_001135190.1:c.50G>A | NP_001128662.1:p.Arg17His | |
| NM_015242.4:c.50G>A | NP_056057.2:p.Arg17His | |
| NM_001369489.1:c.50G>A | NP_001356418.1:p.Arg17His | |
| NR_161388.1:n.767G>A | ||
| NM_001040118.3:c.785G>A MANE Select | NP_001035207.1:p.Arg262His | |
| NM_001135190.2:c.50G>A | NP_001128662.1:p.Arg17His | |
| NM_015242.5:c.50G>A | NP_056057.2:p.Arg17His |