Linked Data
ClinVar Variation Id:
475
dbSNP Id:
rs118204430
ExAC:
9:104189862 A / G
gnomAD v2:
9-104189862-A-G
gnomAD v3:
9-101427580-A-G
gnomAD v4:
9-101427580-A-G
PubMed:
PMID:7717389
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101427580A>G , CM000671.2:g.101427580A>G | GRCh38 |
| NC_000009.11:g.104189862A>G , CM000671.1:g.104189862A>G | GRCh37 |
| NC_000009.10:g.103229683A>G | NCBI36 |
| NG_012387.1:g.13201T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647789.2:c.442T>C MANE Select | ENSP00000497767.1:p.Trp148Arg | |
| ENST00000648064.1:c.442T>C | ENSP00000497990.1:p.Trp148Arg | |
| ENST00000648758.1:c.442T>C | ENSP00000497731.1:p.Trp148Arg | |
| ENST00000649902.1:c.442T>C | ENSP00000497216.1:p.Trp148Arg | |
| ENST00000374855.8:c.442T>C | ENSP00000363988.4:p.Trp148Arg | |
| ENST00000468981.3:n.68-942T>C | ||
| ENST00000616752.1:c.442T>C | ENSP00000481363.1:p.Trp148Arg | |
| NM_000035.3:c.442T>C | NP_000026.2:p.Trp148Arg | |
| NM_000035.4:c.442T>C MANE Select | NP_000026.2:p.Trp148Arg |