Linked Data
dbSNP Id:
rs559407424
gnomAD v2:
21-33036345-C-T
gnomAD v3:
21-31664032-C-T
gnomAD v4:
21-31664032-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31664032C>T , CM000683.2:g.31664032C>T | GRCh38 |
| NC_000021.8:g.33036345C>T , CM000683.1:g.33036345C>T | GRCh37 |
| NC_000021.7:g.31958216C>T | NCBI36 |
| NG_008689.1:g.9411C>T , LRG_652:g.9411C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000270142.11:c.169+146C>T MANE Select | ENSP00000270142.7:n.169+146C>T | |
| ENST00000270142.10:c.169+146C>T | ENSP00000270142.6:n.169+146C>T | |
| ENST00000389995.4:c.112+146C>T | ENSP00000374645.4:n.112+146C>T | |
| ENST00000470944.1:n.1097+146C>T | ||
| ENST00000476106.5:n.432+146C>T | ||
| NM_000454.4:c.169+146C>T , LRG_652t1:c.169+146C>T | NP_000445.1:n.169+146C>T | |
| NM_000454.5:c.169+146C>T MANE Select | NP_000445.1:n.169+146C>T |