Linked Data
ClinVar Variation Id:
161756
ClinVar RCV Id:
RCV000149292
dbSNP Id:
rs193920873
gnomAD v2:
16-2903242-C-T
gnomAD v3:
16-2853241-C-T
gnomAD v4:
16-2853241-C-T
PubMed:
PMID:23265383
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2853241C>T , CM000678.2:g.2853241C>T | GRCh38 |
| NC_000016.9:g.2903242C>T , CM000678.1:g.2903242C>T | GRCh37 |
| NC_000016.8:g.2843243C>T | NCBI36 |
| NG_046976.1:g.10390G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000576381.2:c.*664G>A | ENSP00000458562.2:n.*664G>A | |
| ENST00000161006.8:c.806G>A MANE Select | ENSP00000161006.3:p.Arg269His | |
| ENST00000161006.7:c.806G>A | ENSP00000161006.3:p.Arg269His | |
| ENST00000571228.1:c.476G>A | ENSP00000458506.1:p.Arg159His | |
| ENST00000575164.1:n.658G>A | ||
| NM_022119.3:c.806G>A | NP_071402.1:p.Arg269His | |
| XM_005255473.2:c.806G>A | XP_005255530.1:p.Arg269His | |
| XM_006720915.1:c.593G>A | XP_006720978.1:p.Arg198His | |
| XM_005255473.3:c.806G>A | XP_005255530.1:p.Arg269His | |
| NM_022119.4:c.806G>A MANE Select | NP_071402.1:p.Arg269His |