Linked Data
ClinVar Variation Id:
162067
ClinVar RCV Id:
RCV000149488
dbSNP Id:
rs672601339
gnomAD v2:
17-1174081-G-T
gnomAD v4:
17-1270787-G-T
PubMed:
PMID:25466284
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.1270787G>T , CM000679.2:g.1270787G>T | GRCh38 |
| NC_000017.10:g.1174081G>T , CM000679.1:g.1174081G>T | GRCh37 |
| NC_000017.9:g.1120831G>T | NCBI36 |
| NG_042055.1:g.5224G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391429.2:c.224G>T MANE Select | ENSP00000375248.1:p.Arg75Leu | |
| ENST00000391429.1:c.224G>T | ENSP00000375248.1:p.Arg75Leu | |
| NM_001164405.1:c.224G>T | NP_001157877.1:p.Arg75Leu | |
| NM_001164405.2:c.224G>T MANE Select | NP_001157877.1:p.Arg75Leu |