Linked Data
ClinVar Variation Id:
1434661
ClinVar RCV Id:
RCV001955051
dbSNP Id:
rs753457618
gnomAD v4:
9-6558570-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558570G>T , CM000671.2:g.6558570G>T | GRCh38 |
| NC_000009.11:g.6558570G>T , CM000671.1:g.6558570G>T | GRCh37 |
| NC_000009.10:g.6548570G>T | NCBI36 |
| NG_016397.1:g.92123C>A , LRG_643:g.92123C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2041C>A MANE Select | ENSP00000370737.4:p.Leu681Ile | |
| ENST00000460457.2:n.201C>A | ||
| ENST00000638233.1:n.476C>A | ||
| ENST00000638661.1:c.241C>A | ENSP00000491369.1:p.Leu81Ile | |
| ENST00000638694.1:n.228C>A | ||
| ENST00000639318.1:c.241C>A | ENSP00000491932.1:p.Leu81Ile | |
| ENST00000639364.1:n.1741C>A | ||
| ENST00000639443.1:n.1609C>A | ||
| ENST00000639954.1:n.1749C>A | ||
| ENST00000640208.1:c.241C>A | ENSP00000491895.1:p.Leu81Ile | |
| ENST00000640505.1:n.280C>A | ||
| ENST00000640592.1:n.1924C>A | ||
| ENST00000321612.6:c.2041C>A | ENSP00000370737.3:p.Leu681Ile | |
| ENST00000460457.1:n.180C>A | ||
| NM_000170.2:c.2041C>A , LRG_643t1:c.2041C>A | NP_000161.2:p.Leu681Ile | |
| NM_000170.3:c.2041C>A MANE Select | NP_000161.2:p.Leu681Ile |