Linked Data
dbSNP Id:
rs1476628838
gnomAD v2:
3-147131230-C-T
gnomAD v3:
3-147413443-C-T
gnomAD v4:
3-147413443-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.147413443C>T , CM000665.2:g.147413443C>T | GRCh38 |
| NC_000003.11:g.147131230C>T , CM000665.1:g.147131230C>T | GRCh37 |
| NC_000003.10:g.148613920C>T | NCBI36 |
| NG_015886.1:g.9050C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000282928.5:c.1236C>T MANE Select | ENSP00000282928.4:p.Pro412= | |
| ENST00000282928.4:c.1236C>T | ENSP00000282928.4:p.Pro412= | |
| ENST00000472523.1:n.521+19501C>T | ||
| ENST00000488404.5:c.302C>T | ||
| NM_003412.3:c.1236C>T | NP_003403.2:p.Pro412= | |
| NM_003412.4:c.1236C>T MANE Select | NP_003403.2:p.Pro412= |