Linked Data
ClinVar Variation Id:
596564
dbSNP Id:
rs139442303
ExAC:
9:104189775 T / G
gnomAD v2:
9-104189775-T-G
gnomAD v3:
9-101427493-T-G
gnomAD v4:
9-101427493-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427493T>G , CM000671.2:g.101427493T>G | GRCh38 |
| NC_000009.11:g.104189775T>G , CM000671.1:g.104189775T>G | GRCh37 |
| NC_000009.10:g.103229596T>G | NCBI36 |
| NG_012387.1:g.13288A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647789.2:c.529A>C MANE Select | ENSP00000497767.1:p.Ile177Leu | |
| ENST00000648064.1:c.529A>C | ENSP00000497990.1:p.Ile177Leu | |
| ENST00000648758.1:c.529A>C | ENSP00000497731.1:p.Ile177Leu | |
| ENST00000649902.1:c.529A>C | ENSP00000497216.1:p.Ile177Leu | |
| ENST00000374855.8:c.529A>C | ENSP00000363988.4:p.Ile177Leu | |
| ENST00000468981.3:n.68-855A>C | ||
| ENST00000616752.1:c.529A>C | ENSP00000481363.1:p.Ile177Leu | |
| NM_000035.3:c.529A>C | NP_000026.2:p.Ile177Leu | |
| NM_000035.4:c.529A>C MANE Select | NP_000026.2:p.Ile177Leu |