Linked Data
dbSNP Id:
rs369991502
gnomAD v2:
17-4801914-C-T
gnomAD v3:
17-4898619-C-T
gnomAD v4:
17-4898619-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898619C>T , CM000679.2:g.4898619C>T | GRCh38 |
| NC_000017.10:g.4801914C>T , CM000679.1:g.4801914C>T | GRCh37 |
| NC_000017.9:g.4742693C>T | NCBI36 |
| NG_008029.2:g.9457G>A | |
| NG_028005.1:g.70280C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*117G>A MANE Select | ENSP00000497829.1:n.*117G>A | |
| ENST00000649830.1:c.*235G>A | ENSP00000496907.1:n.*235G>A | |
| ENST00000652550.1:n.1325G>A | ||
| ENST00000293780.4:c.*117G>A | ENSP00000293780.4:n.*117G>A | |
| ENST00000572438.1:n.1285G>A | ||
| NM_000080.3:c.*117G>A | NP_000071.1:n.*117G>A | |
| NM_000080.4:c.*117G>A MANE Select | NP_000071.1:n.*117G>A | |
| XM_017024115.1:c.*117G>A | XP_016879604.1:n.*117G>A |