Linked Data
dbSNP Id:
rs766118226
ExAC:
8:63951318 G / A
gnomAD v2:
8-63951318-G-A
gnomAD v3:
8-63038759-G-A
gnomAD v4:
8-63038759-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.63038759G>A , CM000670.2:g.63038759G>A | GRCh38 |
| NC_000008.10:g.63951318G>A , CM000670.1:g.63951318G>A | GRCh37 |
| NC_000008.9:g.64113872G>A | NCBI36 |
| NG_028126.1:g.5293C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260118.7:c.10C>T MANE Select | ENSP00000260118.6:p.Pro4Ser | |
| ENST00000518113.2:c.10C>T | ENSP00000504520.1:p.Pro4Ser | |
| ENST00000523788.2:n.37C>T | ||
| ENST00000677327.1:n.649C>T | ||
| ENST00000677459.1:c.10C>T | ENSP00000503731.1:p.Pro4Ser | |
| ENST00000677482.1:c.10C>T | ENSP00000504590.1:p.Pro4Ser | |
| ENST00000678069.1:n.44C>T | ||
| ENST00000679326.1:c.10C>T | ENSP00000504262.1:p.Pro4Ser | |
| ENST00000260118.6:c.10C>T | ENSP00000260118.6:p.Pro4Ser | |
| ENST00000518966.5:n.43C>T | ||
| ENST00000520609.5:n.43C>T | ||
| ENST00000523788.1:n.44C>T | ||
| NM_003878.2:c.10C>T | NP_003869.1:p.Pro4Ser | |
| XM_011517623.1:c.10C>T | XP_011515925.1:p.Pro4Ser | |
| XM_011517623.3:c.10C>T | XP_011515925.1:p.Pro4Ser | |
| NM_003878.3:c.10C>T MANE Select | NP_003869.1:p.Pro4Ser |