Linked Data
dbSNP Id:
rs1237778633
gnomAD v2:
20-36991866-T-C
gnomAD v3:
20-38363212-T-C
gnomAD v4:
20-38363212-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38363212T>C , CM000682.2:g.38363212T>C | GRCh38 |
| NC_000020.10:g.36991866T>C , CM000682.1:g.36991866T>C | GRCh37 |
| NC_000020.9:g.36425280T>C | NCBI36 |
| NG_034239.1:g.21802T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217407.3:c.653-763T>C MANE Select | ENSP00000217407.2:n.653-763T>C | |
| ENST00000217407.2:c.653-763T>C | ENSP00000217407.2:n.653-763T>C | |
| NM_004139.4:c.653-763T>C | NP_004130.2:n.653-763T>C | |
| NM_004139.5:c.653-763T>C MANE Select | NP_004130.2:n.653-763T>C |