Linked Data
dbSNP Id:
rs61764045
gnomAD v2:
1-11905872-A-G
gnomAD v3:
1-11845815-A-G
gnomAD v4:
1-11845815-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11845815A>G , CM000663.2:g.11845815A>G | GRCh38 |
| NC_000001.10:g.11905872A>G , CM000663.1:g.11905872A>G | GRCh37 |
| NC_000001.9:g.11828459A>G | NCBI36 |
| NG_012926.1:g.6969T>C , LRG_751:g.6969T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000400892.3:c.*1961+49A>G (CLCN6) | ENSP00000496938.1:n.*1961+49A>G | |
| ENST00000446542.5:n.781+49A>G (NPPA-AS1) | ||
| ENST00000376480.7:c.*194T>C (NPPA) MANE Select | ENSP00000365663.3:n.*194T>C | |
| ENST00000610706.1:c.*188T>C (NPPA) | ENSP00000483195.1:n.*188T>C | |
| NM_006172.3:c.*194T>C , LRG_751t1:c.*194T>C (NPPA) | NP_006163.1:n.*194T>C | |
| NR_037806.1:n.1479+49A>G (NPPA-AS1) | ||
| NM_006172.4:c.*194T>C (NPPA) MANE Select | NP_006163.1:n.*194T>C |