Linked Data
dbSNP Id:
rs1260597294
gnomAD v2:
3-133495972-G-A
gnomAD v3:
3-133777128-G-A
gnomAD v4:
3-133777128-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133777128G>A , CM000665.2:g.133777128G>A | GRCh38 |
| NC_000003.11:g.133495972G>A , CM000665.1:g.133495972G>A | GRCh37 |
| NC_000003.10:g.134978662G>A | NCBI36 |
| NG_013080.1:g.35996G>A | |
| NG_013080.2:g.120131G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000402696.9:c.1952G>A MANE Select | ENSP00000385834.3:p.Arg651Lys | |
| ENST00000402696.7:c.1952G>A | ENSP00000385834.3:p.Arg651Lys | |
| ENST00000461695.1:c.683G>A | ||
| ENST00000467842.1:n.2946G>A | ||
| NM_001063.3:c.1952G>A | NP_001054.1:p.Arg651Lys | |
| XM_011513100.1:c.1952G>A | XP_011511402.1:p.Arg651Lys | |
| NM_001354703.1:c.1820G>A | NP_001341632.1:p.Arg607Lys | |
| NM_001354704.1:c.1571G>A | NP_001341633.1:p.Arg524Lys | |
| NM_001063.4:c.1952G>A MANE Select | NP_001054.2:p.Arg651Lys | |
| NM_001354703.2:c.1820G>A | NP_001341632.2:p.Arg607Lys | |
| NM_001354704.2:c.1571G>A | NP_001341633.2:p.Arg524Lys |