Linked Data
ClinVar Variation Id:
402827
ClinVar RCV Id:
RCV000455581
dbSNP Id:
rs749569923
gnomAD v3:
2-118846940-T-G
gnomAD v4:
2-118846940-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.118846940T>G , CM000664.2:g.118846940T>G | GRCh38 |
| NC_000002.11:g.119604516T>G , CM000664.1:g.119604516T>G | GRCh37 |
| NC_000002.10:g.119320986T>G | NCBI36 |
| NG_007123.1:g.6244A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295206.7:c.228A>C MANE Select | ENSP00000295206.5:p.Pro76= | |
| ENST00000295206.6:c.228A>C | ENSP00000295206.5:p.Pro76= | |
| NM_001426.3:c.228A>C | NP_001417.3:p.Pro76= | |
| NM_001426.4:c.228A>C MANE Select | NP_001417.3:p.Pro76= |