Linked Data
ClinVar Variation Id:
337536
dbSNP Id:
rs772175
ExAC:
2:96944553 G / A
gnomAD v2:
2-96944553-G-A
gnomAD v3:
2-96278815-G-A
gnomAD v4:
2-96278815-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.96278815G>A , CM000664.2:g.96278815G>A | GRCh38 |
| NC_000002.11:g.96944553G>A , CM000664.1:g.96944553G>A | GRCh37 |
| NC_000002.10:g.96308280G>A | NCBI36 |
| NG_016973.1:g.31745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000323853.10:c.5317C>T MANE Select | ENSP00000317123.5:p.Leu1773= | |
| ENST00000323853.9:c.5317C>T | ENSP00000317123.5:p.Leu1773= | |
| ENST00000429650.1:c.898C>T | ENSP00000387870.1:p.Leu300= | |
| ENST00000484372.1:n.541C>T | ||
| ENST00000497539.5:n.1291C>T | ||
| NM_014014.4:c.5317C>T | NP_054733.2:p.Leu1773= | |
| NM_014014.5:c.5317C>T MANE Select | NP_054733.2:p.Leu1773= |