Linked Data
dbSNP Id:
rs746280412
ExAC:
14:91739692 G / A
gnomAD v2:
14-91739692-G-A
gnomAD v4:
14-91273348-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.91273348G>A , CM000676.2:g.91273348G>A | GRCh38 |
| NC_000014.8:g.91739692G>A , CM000676.1:g.91739692G>A | GRCh37 |
| NC_000014.7:g.90809445G>A | NCBI36 |
| NG_033118.1:g.149497C>T | |
| NG_033118.2:g.149497C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389857.11:c.5364C>T MANE Select | ENSP00000374507.6:p.Pro1788= | |
| ENST00000331194.8:c.924+12C>T | ENSP00000330332.8:n.924+12C>T | |
| ENST00000389857.10:c.5364C>T | ENSP00000374507.6:p.Pro1788= | |
| ENST00000556726.5:c.1592C>T | ||
| NM_001080414.3:c.5364C>T | NP_001073883.2:p.Pro1788= | |
| XM_011536796.1:c.5256C>T | XP_011535098.1:p.Pro1752= | |
| XM_011536796.2:c.5256C>T | XP_011535098.1:p.Pro1752= | |
| XM_017021336.1:c.2445C>T | XP_016876825.1:p.Pro815= | |
| NM_001080414.4:c.5364C>T MANE Select | NP_001073883.2:p.Pro1788= |