Linked Data
dbSNP Id:
rs528842654
ExAC:
21:33032206 C / T
gnomAD v2:
21-33032206-C-T
gnomAD v3:
21-31659893-C-T
gnomAD v4:
21-31659893-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31659893C>T , CM000683.2:g.31659893C>T | GRCh38 |
| NC_000021.8:g.33032206C>T , CM000683.1:g.33032206C>T | GRCh37 |
| NC_000021.7:g.31954077C>T | NCBI36 |
| NG_008689.1:g.5272C>T , LRG_652:g.5272C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.72+52C>T MANE Select | ENSP00000270142.7:n.72+52C>T | |
| ENST00000270142.10:c.72+52C>T | ENSP00000270142.6:n.72+52C>T | |
| ENST00000389995.4:c.15+109C>T | ENSP00000374645.4:n.15+109C>T | |
| ENST00000470944.1:n.185C>T | ||
| ENST00000476106.5:n.149+52C>T | ||
| NM_000454.4:c.72+52C>T , LRG_652t1:c.72+52C>T | NP_000445.1:n.72+52C>T | |
| NM_000454.5:c.72+52C>T MANE Select | NP_000445.1:n.72+52C>T |