Linked Data
ClinVar Variation Id:
1928328
ClinVar RCV Id:
RCV002614478
dbSNP Id:
rs1313564165
gnomAD v2:
7-92733450-A-T
gnomAD v4:
7-93104137-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.93104137A>T , CM000669.2:g.93104137A>T | GRCh38 |
| NC_000007.13:g.92733450A>T , CM000669.1:g.92733450A>T | GRCh37 |
| NC_000007.12:g.92571386A>T | NCBI36 |
| NG_023419.1:g.18887T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379958.3:c.1961T>A MANE Select | ENSP00000369292.2:p.Ile654Asn | |
| ENST00000379958.2:c.1961T>A | ENSP00000369292.2:p.Ile654Asn | |
| ENST00000446617.1:c.1961T>A | ENSP00000414529.1:p.Ile654Asn | |
| ENST00000620985.4:c.1961T>A | ENSP00000484636.1:p.Ile654Asn | |
| NM_001193307.1:c.1961T>A | NP_001180236.1:p.Ile654Asn | |
| NM_017654.3:c.1961T>A | NP_060124.2:p.Ile654Asn | |
| NM_017654.4:c.1961T>A MANE Select | NP_060124.2:p.Ile654Asn | |
| NM_001193307.2:c.1961T>A | NP_001180236.1:p.Ile654Asn |