Linked Data
dbSNP Id:
rs1323682157
gnomAD v2:
20-36992090-G-C
gnomAD v3:
20-38363436-G-C
gnomAD v4:
20-38363436-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.38363436G>C , CM000682.2:g.38363436G>C | GRCh38 |
| NC_000020.10:g.36992090G>C , CM000682.1:g.36992090G>C | GRCh37 |
| NC_000020.9:g.36425504G>C | NCBI36 |
| NG_034239.1:g.22026G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217407.3:c.653-539G>C MANE Select | ENSP00000217407.2:n.653-539G>C | |
| ENST00000217407.2:c.653-539G>C | ENSP00000217407.2:n.653-539G>C | |
| NM_004139.4:c.653-539G>C | NP_004130.2:n.653-539G>C | |
| NM_004139.5:c.653-539G>C MANE Select | NP_004130.2:n.653-539G>C |