Linked Data
dbSNP Id:
rs758123010
gnomAD v2:
4-964806-G-A
gnomAD v4:
4-971018-G-A
COSMIC:
COSM1619253
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.971018G>A , CM000666.2:g.971018G>A | GRCh38 |
| NC_000004.11:g.964806G>A , CM000666.1:g.964806G>A | GRCh37 |
| NC_000004.10:g.954806G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000273814.8:c.326C>T MANE Select | ENSP00000273814.3:p.Thr109Met | |
| ENST00000273814.7:c.326C>T | ENSP00000273814.3:p.Thr109Met | |
| ENST00000509465.5:c.166C>T | ||
| ENST00000510286.1:c.101C>T | ENSP00000427268.1:p.Thr34Met | |
| NM_001347.3:c.326C>T | NP_001338.2:p.Thr109Met | |
| XM_011513411.1:c.326C>T | XP_011511713.1:p.Thr109Met | |
| XM_011513412.1:c.326C>T | XP_011511714.1:p.Thr109Met | |
| XM_011513413.1:c.326C>T | XP_011511715.1:p.Thr109Met | |
| XM_011513414.1:c.326C>T | XP_011511716.1:p.Thr109Met | |
| XM_011513415.1:c.326C>T | XP_011511717.1:p.Thr109Met | |
| XM_011513414.2:c.326C>T | XP_011511716.1:p.Thr109Met | |
| XM_017007814.1:c.326C>T | XP_016863303.1:p.Thr109Met | |
| XM_017007815.1:c.326C>T | XP_016863304.1:p.Thr109Met | |
| XR_002959715.1:n.389C>T | ||
| NM_001347.4:c.326C>T MANE Select | NP_001338.2:p.Thr109Met |