Linked Data
dbSNP Id:
rs533889946
gnomAD v2:
4-964822-C-T
gnomAD v3:
4-971034-C-T
gnomAD v4:
4-971034-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.971034C>T , CM000666.2:g.971034C>T | GRCh38 |
| NC_000004.11:g.964822C>T , CM000666.1:g.964822C>T | GRCh37 |
| NC_000004.10:g.954822C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273814.8:c.310G>A MANE Select | ENSP00000273814.3:p.Val104Met | |
| ENST00000273814.7:c.310G>A | ENSP00000273814.3:p.Val104Met | |
| ENST00000509465.5:c.150G>A | ||
| ENST00000510286.1:c.85G>A | ENSP00000427268.1:p.Val29Met | |
| NM_001347.3:c.310G>A | NP_001338.2:p.Val104Met | |
| XM_011513411.1:c.310G>A | XP_011511713.1:p.Val104Met | |
| XM_011513412.1:c.310G>A | XP_011511714.1:p.Val104Met | |
| XM_011513413.1:c.310G>A | XP_011511715.1:p.Val104Met | |
| XM_011513414.1:c.310G>A | XP_011511716.1:p.Val104Met | |
| XM_011513415.1:c.310G>A | XP_011511717.1:p.Val104Met | |
| XM_011513414.2:c.310G>A | XP_011511716.1:p.Val104Met | |
| XM_017007814.1:c.310G>A | XP_016863303.1:p.Val104Met | |
| XM_017007815.1:c.310G>A | XP_016863304.1:p.Val104Met | |
| XR_002959715.1:n.373G>A | ||
| NM_001347.4:c.310G>A MANE Select | NP_001338.2:p.Val104Met |