Linked Data
dbSNP Id:
rs763071395
ExAC:
21:47404351 T / C
gnomAD v2:
21-47404351-T-C
gnomAD v4:
21-45984437-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.45984437T>C , CM000683.2:g.45984437T>C | GRCh38 |
| NC_000021.8:g.47404351T>C , CM000683.1:g.47404351T>C | GRCh37 |
| NC_000021.7:g.46228779T>C | NCBI36 |
| NG_008674.1:g.7689T>C , LRG_475:g.7689T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361866.8:c.396T>C MANE Select | ENSP00000355180.3:p.Ala132= | |
| ENST00000361866.7:c.396T>C | ENSP00000355180.3:p.Ala132= | |
| ENST00000612273.1:c.396T>C | ENSP00000483630.1:p.Ala132= | |
| NM_001848.2:c.396T>C , LRG_475t1:c.396T>C | NP_001839.2:p.Ala132= | |
| NM_001848.3:c.396T>C MANE Select | NP_001839.2:p.Ala132= |