Linked Data
dbSNP Id:
rs745930533
ExAC:
14:101349497 G / A
gnomAD v2:
14-101349497-G-A
gnomAD v4:
14-100883160-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.100883160G>A , CM000676.2:g.100883160G>A | GRCh38 |
| NC_000014.8:g.101349497G>A , CM000676.1:g.101349497G>A | GRCh37 |
| NC_000014.7:g.100419250G>A | NCBI36 |
| NG_045001.1:g.6688C>T | |
| NG_045000.5:g.51892G>A | |
| NG_045000.6:g.51892G>A | |
| NG_045001.2:g.25563C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649591.1:c.1629C>T MANE Select | ENSP00000497482.1:p.Ala543= | |
| ENST00000534062.1:c.1629C>T | ENSP00000435342.1:p.Ala543= | |
| NM_001134888.2:c.1629C>T | NP_001128360.1:p.Ala543= | |
| NM_001134888.3:c.1629C>T MANE Select | NP_001128360.1:p.Ala543= |