Linked Data
dbSNP Id:
rs10080
gnomAD v2:
10-33467108-G-A
gnomAD v3:
10-33178180-G-A
gnomAD v4:
10-33178180-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.33178180G>A , CM000672.2:g.33178180G>A | GRCh38 |
| NC_000010.10:g.33467108G>A , CM000672.1:g.33467108G>A | GRCh37 |
| NC_000010.9:g.33507114G>A | NCBI36 |
| NG_030328.1:g.161726C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000374867.7:c.*1896C>T MANE Select | ENSP00000364001.2:n.*1896C>T | |
| ENST00000265371.8:c.*1896C>T | ENSP00000265371.3:n.*1896C>T | |
| ENST00000374867.6:c.*1896C>T | ENSP00000364001.2:n.*1896C>T | |
| ENST00000374875.5:c.*1896C>T | ENSP00000364009.1:n.*1896C>T | |
| ENST00000395995.5:c.*1896C>T | ENSP00000379317.1:n.*1896C>T | |
| NM_001244972.1:c.*1896C>T | NP_001231901.1:n.*1896C>T | |
| NM_001244973.1:c.*1896C>T | NP_001231902.1:n.*1896C>T | |
| NM_003873.5:c.*1896C>T | NP_003864.4:n.*1896C>T | |
| NR_045259.1:n.4988C>T | ||
| XM_006717521.1:c.*1896C>T | XP_006717584.1:n.*1896C>T | |
| XM_006717522.1:c.*1896C>T | XP_006717585.1:n.*1896C>T | |
| XM_006717523.1:c.*1896C>T | XP_006717586.1:n.*1896C>T | |
| XM_006717524.1:c.*1896C>T | XP_006717587.1:n.*1896C>T | |
| XM_006717525.1:c.*1896C>T | XP_006717588.1:n.*1896C>T | |
| NM_001330068.1:c.*1896C>T | NP_001316997.1:n.*1896C>T | |
| XM_006717521.2:c.*1896C>T | XP_006717584.1:n.*1896C>T | |
| XM_006717522.2:c.*1896C>T | XP_006717585.1:n.*1896C>T | |
| XM_006717524.2:c.*1896C>T | XP_006717587.1:n.*1896C>T | |
| XM_006717525.2:c.*1896C>T | XP_006717588.1:n.*1896C>T | |
| XM_017016865.2:c.*1896C>T | XP_016872354.1:n.*1896C>T | |
| XM_017016866.2:c.*1896C>T | XP_016872355.1:n.*1896C>T | |
| NM_003873.6:c.*1896C>T | NP_003864.4:n.*1896C>T | |
| NM_001244972.2:c.*1896C>T | NP_001231901.2:n.*1896C>T | |
| NM_001244973.2:c.*1896C>T | NP_001231902.2:n.*1896C>T | |
| NM_001330068.2:c.*1896C>T | NP_001316997.2:n.*1896C>T | |
| NM_003873.7:c.*1896C>T MANE Select | NP_003864.5:n.*1896C>T | |
| NR_045259.2:n.4750C>T |