Linked Data
ClinVar Variation Id:
1628876
ClinVar RCV Id:
RCV002116362
dbSNP Id:
rs1330937800
gnomAD v2:
19-13247099-A-T
gnomAD v4:
19-13136285-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.13136285A>T , CM000681.2:g.13136285A>T | GRCh38 |
| NC_000019.9:g.13247099A>T , CM000681.1:g.13247099A>T | GRCh37 |
| NC_000019.8:g.13108099A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000586171.3:c.1000A>T | ENSP00000467120.2:p.Ile334Phe | |
| ENST00000700232.1:c.1000A>T | ENSP00000514870.1:p.Ile334Phe | |
| ENST00000292431.5:c.1000A>T MANE Select | ENSP00000292431.3:p.Ile334Phe | |
| ENST00000292431.4:c.1000A>T | ENSP00000292431.3:p.Ile334Phe | |
| NM_052876.3:c.1000A>T | NP_443108.1:p.Ile334Phe | |
| XM_005259721.2:c.1000A>T | XP_005259778.1:p.Ile334Phe | |
| XM_005259721.3:c.1000A>T | XP_005259778.1:p.Ile334Phe | |
| NM_052876.4:c.1000A>T MANE Select | NP_443108.1:p.Ile334Phe |