Linked Data
dbSNP Id:
rs10816533
gnomAD v2:
9-99539138-G-C
gnomAD v3:
9-96776856-G-C
gnomAD v4:
9-96776856-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.96776856G>C , CM000671.2:g.96776856G>C | GRCh38 |
| NC_000009.11:g.99539138G>C , CM000671.1:g.99539138G>C | GRCh37 |
| NC_000009.10:g.98578959G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000223428.9:c.-176-611C>G MANE Select | ENSP00000223428.4:n.-176-611C>G | |
| ENST00000223428.8:c.-176-611C>G | ENSP00000223428.4:n.-176-611C>G | |
| ENST00000374641.3:c.-176-611C>G | ENSP00000363772.3:n.-176-611C>G | |
| ENST00000375231.5:c.-176-611C>G | ENSP00000364379.1:n.-176-611C>G | |
| NM_001314059.1:c.-176-611C>G | NP_001300988.1:n.-176-611C>G | |
| NM_001314060.1:c.-303-611C>G | NP_001300989.1:n.-303-611C>G | |
| NM_014930.1:c.-176-611C>G | NP_055745.1:n.-176-611C>G | |
| NM_014930.2:c.-176-611C>G | NP_055745.1:n.-176-611C>G | |
| XM_005251807.2:c.-176-611C>G | XP_005251864.1:n.-176-611C>G | |
| XM_005251808.2:c.-176-611C>G | XP_005251865.1:n.-176-611C>G | |
| XM_005251809.2:c.-303-611C>G | XP_005251866.1:n.-303-611C>G | |
| XM_011518393.2:c.-387-611C>G | XP_011516695.1:n.-387-611C>G | |
| XM_017014483.1:c.-176-611C>G | XP_016869972.1:n.-176-611C>G | |
| NM_001314059.2:c.-176-611C>G | NP_001300988.1:n.-176-611C>G | |
| NM_001314060.2:c.-303-611C>G | NP_001300989.1:n.-303-611C>G | |
| NM_014930.3:c.-176-611C>G MANE Select | NP_055745.1:n.-176-611C>G |