Linked Data
dbSNP Id:
rs771875500
gnomAD v2:
21-33032033-G-C
gnomAD v3:
21-31659720-G-C
gnomAD v4:
21-31659720-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659720G>C , CM000683.2:g.31659720G>C | GRCh38 |
| NC_000021.8:g.33032033G>C , CM000683.1:g.33032033G>C | GRCh37 |
| NC_000021.7:g.31953904G>C | NCBI36 |
| NG_008689.1:g.5099G>C , LRG_652:g.5099G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.-50G>C MANE Select | ENSP00000270142.7:n.-50G>C | |
| ENST00000270142.10:c.-50G>C | ENSP00000270142.6:n.-50G>C | |
| ENST00000389995.4:c.-50G>C | ENSP00000374645.4:n.-50G>C | |
| ENST00000470944.1:n.12G>C | ||
| ENST00000476106.5:n.28G>C | ||
| NM_000454.4:c.-50G>C , LRG_652t1:c.-50G>C | NP_000445.1:n.-50G>C | |
| NM_000454.5:c.-50G>C MANE Select | NP_000445.1:n.-50G>C |