Linked Data
dbSNP Id:
rs755764652
ExAC:
17:4801993 C / A
gnomAD v2:
17-4801993-C-A
gnomAD v3:
17-4898698-C-A
gnomAD v4:
17-4898698-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.4898698C>A , CM000679.2:g.4898698C>A | GRCh38 |
| NC_000017.10:g.4801993C>A , CM000679.1:g.4801993C>A | GRCh37 |
| NC_000017.9:g.4742772C>A | NCBI36 |
| NG_008029.2:g.9378G>T | |
| NG_028005.1:g.70359C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649488.2:c.*38G>T MANE Select | ENSP00000497829.1:n.*38G>T | |
| ENST00000649830.1:c.*156G>T | ENSP00000496907.1:n.*156G>T | |
| ENST00000652550.1:n.1246G>T | ||
| ENST00000293780.4:c.*38G>T | ENSP00000293780.4:n.*38G>T | |
| ENST00000572438.1:n.1206G>T | ||
| NM_000080.3:c.*38G>T | NP_000071.1:n.*38G>T | |
| NM_000080.4:c.*38G>T MANE Select | NP_000071.1:n.*38G>T | |
| XM_017024115.1:c.*38G>T | XP_016879604.1:n.*38G>T |