Linked Data
dbSNP Id:
rs541886350
ExAC:
16:81348868 G / T
gnomAD v2:
16-81348868-G-T
gnomAD v3:
16-81315263-G-T
gnomAD v4:
16-81315263-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81315263G>T , CM000678.2:g.81315263G>T | GRCh38 |
| NC_000016.9:g.81348868G>T , CM000678.1:g.81348868G>T | GRCh37 |
| NC_000016.8:g.79906369G>T | NCBI36 |
| NG_009007.1:g.5298G>T , LRG_242:g.5298G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.150G>T | ENSP00000498114.1:p.Ala50= | |
| ENST00000648994.2:c.150G>T MANE Select | ENSP00000497351.1:p.Ala50= | |
| ENST00000650388.1:c.150G>T | ENSP00000498081.1:p.Ala50= | |
| ENST00000674788.1:n.275G>T | ||
| ENST00000568107.2:c.150G>T | ENSP00000476795.1:p.Ala50= | |
| NM_022041.3:c.150G>T , LRG_242t1:c.150G>T | NP_071324.1:p.Ala50= | |
| XM_017023734.1:c.-375G>T | XP_016879223.1:n.-375G>T | |
| NM_001377486.1:c.-375G>T | NP_001364415.1:n.-375G>T | |
| NM_022041.4:c.150G>T MANE Select | NP_071324.1:p.Ala50= |