Linked Data
ClinVar Variation Id:
337539
dbSNP Id:
rs377641548
ExAC:
2:96949308 G / A
gnomAD v2:
2-96949308-G-A
gnomAD v3:
2-96283570-G-A
gnomAD v4:
2-96283570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96283570G>A , CM000664.2:g.96283570G>A | GRCh38 |
| NC_000002.11:g.96949308G>A , CM000664.1:g.96949308G>A | GRCh37 |
| NC_000002.10:g.96313035G>A | NCBI36 |
| NG_016973.1:g.26990C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.4728C>T MANE Select | ENSP00000317123.5:p.Ile1576= | |
| ENST00000323853.9:c.4728C>T | ENSP00000317123.5:p.Ile1576= | |
| ENST00000429650.1:c.309C>T | ENSP00000387870.1:p.Ile103= | |
| ENST00000480242.1:n.1206C>T | ||
| ENST00000497539.5:n.702C>T | ||
| NM_014014.4:c.4728C>T | NP_054733.2:p.Ile1576= | |
| NM_014014.5:c.4728C>T MANE Select | NP_054733.2:p.Ile1576= |