Linked Data
dbSNP Id:
rs2360111
gnomAD v2:
17-831667-C-T
gnomAD v3:
17-928427-C-T
gnomAD v4:
17-928427-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.928427C>T , CM000679.2:g.928427C>T | GRCh38 |
| NC_000017.10:g.831667C>T , CM000679.1:g.831667C>T | GRCh37 |
| NC_000017.9:g.778417C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000336868.8:c.360+50892G>A MANE Select | ENSP00000337443.3:n.360+50892G>A | |
| ENST00000336868.7:c.360+50892G>A | ENSP00000337443.3:n.360+50892G>A | |
| ENST00000571338.1:n.389+1236G>A | ||
| ENST00000575171.1:n.31+50892G>A | ||
| NM_022463.4:c.360+50892G>A | NP_071908.2:n.360+50892G>A | |
| XM_005256756.3:c.360+50892G>A | XP_005256813.1:n.360+50892G>A | |
| XM_005256756.4:c.360+50892G>A | XP_005256813.1:n.360+50892G>A | |
| XM_017024949.1:c.360+50892G>A | XP_016880438.1:n.360+50892G>A | |
| NM_022463.5:c.360+50892G>A MANE Select | NP_071908.2:n.360+50892G>A |