Linked Data
dbSNP Id:
rs763839790
ExAC:
16:81388391 G / A
gnomAD v2:
16-81388391-G-A
gnomAD v4:
16-81354786-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.81354786G>A , CM000678.2:g.81354786G>A | GRCh38 |
| NC_000016.9:g.81388391G>A , CM000678.1:g.81388391G>A | GRCh37 |
| NC_000016.8:g.79945892G>A | NCBI36 |
| NG_009007.1:g.44821G>A , LRG_242:g.44821G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000648349.2:c.*341+31G>A | ENSP00000498114.1:n.*341+31G>A | |
| ENST00000648994.2:c.633+31G>A MANE Select | ENSP00000497351.1:n.633+31G>A | |
| ENST00000650388.1:c.168-1999G>A | ENSP00000498081.1:n.168-1999G>A | |
| ENST00000674788.1:n.789G>A | ||
| ENST00000568107.2:c.633+31G>A | ENSP00000476795.1:n.633+31G>A | |
| NM_022041.3:c.633+31G>A , LRG_242t1:c.633+31G>A | NP_071324.1:n.633+31G>A | |
| XM_017023734.1:c.-7+31G>A | XP_016879223.1:n.-7+31G>A | |
| NM_001377486.1:c.-7+31G>A | NP_001364415.1:n.-7+31G>A | |
| NM_022041.4:c.633+31G>A MANE Select | NP_071324.1:n.633+31G>A |