Linked Data
ClinVar Variation Id:
372140
ClinVar RCV Id:
RCV000412625
dbSNP Id:
rs1057517662
gnomAD v2:
5-151047116-C-T
gnomAD v3:
5-151667555-C-T
gnomAD v4:
5-151667555-C-T
COSMIC:
COSM4642963
PubMed:
PMID:26027498
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.151667555C>T , CM000667.2:g.151667555C>T | GRCh38 |
| NC_000005.9:g.151047116C>T , CM000667.1:g.151047116C>T | GRCh37 |
| NC_000005.8:g.151027309C>T | NCBI36 |
| NG_042174.1:g.24500G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000231061.9:c.497G>A MANE Select | ENSP00000231061.4:p.Arg166His | |
| ENST00000231061.8:c.497G>A | ENSP00000231061.4:p.Arg166His | |
| ENST00000520687.1:n.100G>A | ||
| ENST00000521569.1:c.224G>A | ENSP00000428119.1:p.Arg75His | |
| ENST00000524277.1:n.424G>A | ||
| ENST00000537849.1:n.30G>A | ||
| ENST00000538026.5:c.224G>A | ENSP00000440127.1:p.Arg75His | |
| NM_001309443.1:c.494G>A | NP_001296372.1:p.Arg165His | |
| NM_001309444.1:c.497G>A | NP_001296373.1:p.Arg166His | |
| NM_003118.3:c.497G>A | NP_003109.1:p.Arg166His | |
| NM_003118.4:c.497G>A MANE Select | NP_003109.1:p.Arg166His | |
| NM_001309443.2:c.494G>A | NP_001296372.1:p.Arg165His | |
| NM_001309444.2:c.497G>A | NP_001296373.1:p.Arg166His |