Linked Data
ClinVar Variation Id:
1444437
ClinVar RCV Id:
RCV001955904
dbSNP Id:
rs753457618
ExAC:
9:6558570 G / A
gnomAD v2:
9-6558570-G-A
gnomAD v3:
9-6558570-G-A
gnomAD v4:
9-6558570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6558570G>A , CM000671.2:g.6558570G>A | GRCh38 |
| NC_000009.11:g.6558570G>A , CM000671.1:g.6558570G>A | GRCh37 |
| NC_000009.10:g.6548570G>A | NCBI36 |
| NG_016397.1:g.92123C>T , LRG_643:g.92123C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000321612.8:c.2041C>T MANE Select | ENSP00000370737.4:p.Leu681Phe | |
| ENST00000460457.2:n.201C>T | ||
| ENST00000638233.1:n.476C>T | ||
| ENST00000638661.1:c.241C>T | ENSP00000491369.1:p.Leu81Phe | |
| ENST00000638694.1:n.228C>T | ||
| ENST00000639318.1:c.241C>T | ENSP00000491932.1:p.Leu81Phe | |
| ENST00000639364.1:n.1741C>T | ||
| ENST00000639443.1:n.1609C>T | ||
| ENST00000639954.1:n.1749C>T | ||
| ENST00000640208.1:c.241C>T | ENSP00000491895.1:p.Leu81Phe | |
| ENST00000640505.1:n.280C>T | ||
| ENST00000640592.1:n.1924C>T | ||
| ENST00000321612.6:c.2041C>T | ENSP00000370737.3:p.Leu681Phe | |
| ENST00000460457.1:n.180C>T | ||
| NM_000170.2:c.2041C>T , LRG_643t1:c.2041C>T | NP_000161.2:p.Leu681Phe | |
| NM_000170.3:c.2041C>T MANE Select | NP_000161.2:p.Leu681Phe |