Linked Data
ClinVar Variation Id:
3224704
ClinVar RCV Id:
RCV004521394
dbSNP Id:
rs1392976414
gnomAD v2:
7-152357809-G-A
gnomAD v4:
7-152660724-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.152660724G>A , CM000669.2:g.152660724G>A | GRCh38 |
| NC_000007.13:g.152357809G>A , CM000669.1:g.152357809G>A | GRCh37 |
| NC_000007.12:g.151988742G>A | NCBI36 |
| NG_027988.1:g.20442C>T | |
| NG_027988.2:g.20442C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000698506.1:c.-47-11361C>T | ENSP00000513758.1:n.-47-11361C>T | |
| ENST00000698507.1:n.166C>T | ||
| ENST00000359321.2:c.98C>T MANE Select | ENSP00000352271.1:p.Ala33Val | |
| ENST00000359321.1:c.98C>T | ENSP00000352271.1:p.Ala33Val | |
| ENST00000495707.1:n.120C>T | ||
| NM_005431.1:c.98C>T | NP_005422.1:p.Ala33Val | |
| NM_005431.2:c.98C>T MANE Select | NP_005422.1:p.Ala33Val |