Linked Data
ClinVar Variation Id:
3151910
ClinVar RCV Id:
RCV004438778
dbSNP Id:
rs567359160
ExAC:
15:65350816 C / T
gnomAD v2:
15-65350816-C-T
gnomAD v3:
15-65058478-C-T
gnomAD v4:
15-65058478-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.65058478C>T , CM000677.2:g.65058478C>T | GRCh38 |
| NC_000015.9:g.65350816C>T , CM000677.1:g.65350816C>T | GRCh37 |
| NC_000015.8:g.63137869C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000220062.9:c.374G>A MANE Select | ENSP00000220062.4:p.Arg125His | |
| ENST00000220062.8:c.374G>A | ENSP00000220062.4:p.Arg125His | |
| ENST00000421977.7:c.317G>A | ENSP00000390028.3:p.Arg106His | |
| ENST00000434605.2:c.341G>A | ENSP00000412787.2:p.Arg114His | |
| NM_001307930.1:c.317G>A | NP_001294859.1:p.Arg106His | |
| NM_016563.2:c.374G>A | NP_057647.1:p.Arg125His | |
| NM_016563.3:c.374G>A | NP_057647.1:p.Arg125His | |
| XM_005254434.3:c.374G>A | XP_005254491.1:p.Arg125His | |
| XM_011521660.1:c.359G>A | XP_011519962.1:p.Arg120His | |
| XM_011521661.1:c.374G>A | XP_011519963.1:p.Arg125His | |
| XM_005254434.4:c.374G>A | XP_005254491.1:p.Arg125His | |
| XM_011521660.3:c.359G>A | XP_011519962.1:p.Arg120His | |
| XM_017022296.1:c.374G>A | XP_016877785.1:p.Arg125His | |
| NM_016563.4:c.374G>A MANE Select | NP_057647.1:p.Arg125His | |
| NM_001307930.2:c.317G>A | NP_001294859.1:p.Arg106His | |
| NM_001379429.1:c.341G>A | NP_001366358.1:p.Arg114His |