Linked Data
dbSNP Id:
rs560365257
gnomAD v2:
9-99538997-G-A
gnomAD v3:
9-96776715-G-A
gnomAD v4:
9-96776715-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96776715G>A , CM000671.2:g.96776715G>A | GRCh38 |
| NC_000009.11:g.99538997G>A , CM000671.1:g.99538997G>A | GRCh37 |
| NC_000009.10:g.98578818G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000223428.9:c.-176-470C>T MANE Select | ENSP00000223428.4:n.-176-470C>T | |
| ENST00000223428.8:c.-176-470C>T | ENSP00000223428.4:n.-176-470C>T | |
| ENST00000374641.3:c.-176-470C>T | ENSP00000363772.3:n.-176-470C>T | |
| ENST00000375231.5:c.-176-470C>T | ENSP00000364379.1:n.-176-470C>T | |
| NM_001314059.1:c.-176-470C>T | NP_001300988.1:n.-176-470C>T | |
| NM_001314060.1:c.-303-470C>T | NP_001300989.1:n.-303-470C>T | |
| NM_014930.1:c.-176-470C>T | NP_055745.1:n.-176-470C>T | |
| NM_014930.2:c.-176-470C>T | NP_055745.1:n.-176-470C>T | |
| XM_005251807.2:c.-176-470C>T | XP_005251864.1:n.-176-470C>T | |
| XM_005251808.2:c.-176-470C>T | XP_005251865.1:n.-176-470C>T | |
| XM_005251809.2:c.-303-470C>T | XP_005251866.1:n.-303-470C>T | |
| XM_011518393.2:c.-387-470C>T | XP_011516695.1:n.-387-470C>T | |
| XM_017014483.1:c.-176-470C>T | XP_016869972.1:n.-176-470C>T | |
| NM_001314059.2:c.-176-470C>T | NP_001300988.1:n.-176-470C>T | |
| NM_001314060.2:c.-303-470C>T | NP_001300989.1:n.-303-470C>T | |
| NM_014930.3:c.-176-470C>T MANE Select | NP_055745.1:n.-176-470C>T |