Linked Data
dbSNP Id:
rs141489852
ExAC:
10:96702048 G / A
gnomAD v2:
10-96702048-G-A
gnomAD v3:
10-94942291-G-A
gnomAD v4:
10-94942291-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94942291G>A , CM000672.2:g.94942291G>A | GRCh38 |
| NC_000010.10:g.96702048G>A , CM000672.1:g.96702048G>A | GRCh37 |
| NC_000010.9:g.96692038G>A | NCBI36 |
| NG_008385.1:g.8634G>A | |
| NG_008385.2:g.9134G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000260682.8:c.431G>A MANE Select | ENSP00000260682.6:p.Arg144His | |
| ENST00000643112.1:c.431G>A | ENSP00000496202.1:p.Arg144His | |
| ENST00000645207.1:n.584G>A | ||
| ENST00000260682.6:c.431G>A | ENSP00000260682.6:p.Arg144His | |
| ENST00000461906.1:n.456G>A | ||
| ENST00000473496.1:n.202G>A | ||
| NM_000771.3:c.431G>A | NP_000762.2:p.Arg144His | |
| NM_000771.4:c.431G>A MANE Select | NP_000762.2:p.Arg144His |