gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.174491326C>A , CM000666.2:g.174491326C>A | GRCh38 |
| NC_000004.11:g.175412477C>A , CM000666.1:g.175412477C>A | GRCh37 |
| NC_000004.10:g.175649052C>A | NCBI36 |
| NG_011689.1:g.36316G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296522.11:c.*630G>T MANE Select | ENSP00000296522.6:n.*630G>T | |
| ENST00000296522.10:c.*630G>T | ENSP00000296522.6:n.*630G>T | |
| ENST00000510835.5:c.*1193G>T | ENSP00000427699.1:n.*1193G>T | |
| ENST00000541923.5:c.*630G>T | ENSP00000438017.1:n.*630G>T | |
| ENST00000542498.5:c.*758G>T | ENSP00000443644.1:n.*758G>T | |
| NM_000860.5:c.*630G>T | NP_000851.2:n.*630G>T | |
| NM_001145816.2:c.*730G>T | NP_001139288.1:n.*730G>T | |
| NM_001256301.1:c.*630G>T | NP_001243230.1:n.*630G>T | |
| NM_001256305.1:c.*758G>T | NP_001243234.1:n.*758G>T | |
| NM_001256306.1:c.*630G>T | NP_001243235.1:n.*630G>T | |
| NM_001256307.1:c.*630G>T | NP_001243236.1:n.*630G>T | |
| NM_000860.6:c.*630G>T MANE Select | NP_000851.2:n.*630G>T | |
| NM_001145816.3:c.*730G>T | NP_001139288.1:n.*730G>T | |
| NM_001256305.2:c.*758G>T | NP_001243234.1:n.*758G>T | |
| NM_001256306.2:c.*630G>T | NP_001243235.1:n.*630G>T | |
| NM_001256307.2:c.*630G>T | NP_001243236.1:n.*630G>T |