Linked Data
dbSNP Id:
rs121918679
ExAC:
3:133485220 G / A
gnomAD v2:
3-133485220-G-A
gnomAD v4:
3-133766376-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.133766376G>A , CM000665.2:g.133766376G>A | GRCh38 |
| NC_000003.11:g.133485220G>A , CM000665.1:g.133485220G>A | GRCh37 |
| NC_000003.10:g.134967910G>A | NCBI36 |
| NG_013080.1:g.25244G>A | |
| NG_013080.2:g.109379G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000402696.9:c.1429G>A MANE Select | ENSP00000385834.3:p.Ala477Thr | |
| ENST00000402696.7:c.1429G>A | ENSP00000385834.3:p.Ala477Thr | |
| ENST00000461695.1:c.99G>A | ||
| NM_001063.3:c.1429G>A | NP_001054.1:p.Ala477Thr | |
| XM_011513100.1:c.1429G>A | XP_011511402.1:p.Ala477Thr | |
| NM_001354703.1:c.1297G>A | NP_001341632.1:p.Ala433Thr | |
| NM_001354704.1:c.1048G>A | NP_001341633.1:p.Ala350Thr | |
| NM_001063.4:c.1429G>A MANE Select | NP_001054.2:p.Ala477Thr | |
| NM_001354703.2:c.1297G>A | NP_001341632.2:p.Ala433Thr | |
| NM_001354704.2:c.1048G>A | NP_001341633.2:p.Ala350Thr |