gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.12233526A>T , CM000669.2:g.12233526A>T | GRCh38 |
| NC_000007.13:g.12273152A>T , CM000669.1:g.12273152A>T | GRCh37 |
| NC_000007.12:g.12239677A>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000444443.6:c.*1551A>T | ENSP00000401302.2:n.*1551A>T | |
| ENST00000704417.1:c.*1551A>T | ENSP00000515893.1:n.*1551A>T | |
| ENST00000396668.8:c.*1551A>T MANE Select | ENSP00000379902.3:n.*1551A>T | |
| ENST00000396667.7:c.*1551A>T | ENSP00000379901.2:n.*1551A>T | |
| NM_001134232.1:c.*1551A>T | NP_001127704.1:n.*1551A>T | |
| NM_018374.3:c.*1551A>T | NP_060844.2:n.*1551A>T | |
| XM_005249789.1:c.*1551A>T | XP_005249846.1:n.*1551A>T | |
| NM_001134232.2:c.*1551A>T MANE Select | NP_001127704.1:n.*1551A>T | |
| NM_018374.4:c.*1551A>T | NP_060844.2:n.*1551A>T |