Linked Data
dbSNP Id:
rs1312341772
gnomAD v2:
3-69168648-T-A
gnomAD v3:
3-69119497-T-A
gnomAD v4:
3-69119497-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.69119497T>A , CM000665.2:g.69119497T>A | GRCh38 |
| NC_000003.11:g.69168648T>A , CM000665.1:g.69168648T>A | GRCh37 |
| NC_000003.10:g.69251338T>A | NCBI36 |
| NG_041828.1:g.8099A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420581.7:c.858A>T MANE Select | ENSP00000414670.3:p.Thr286= | |
| ENST00000420581.6:c.858A>T | ENSP00000414670.2:p.Thr286= | |
| ENST00000475434.1:c.858A>T | ENSP00000418645.1:p.Thr286= | |
| ENST00000489031.5:c.858A>T | ENSP00000417210.1:p.Thr286= | |
| NM_001304418.1:c.858A>T | NP_001291347.1:p.Thr286= | |
| NM_198271.4:c.858A>T | NP_938012.2:p.Thr286= | |
| NM_001304418.3:c.858A>T | NP_001291347.1:p.Thr286= | |
| NM_198271.5:c.858A>T MANE Select | NP_938012.2:p.Thr286= |