gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3746146T>A , CM000678.2:g.3746146T>A | GRCh38 |
| NC_000016.9:g.3796147T>A , CM000678.1:g.3796147T>A | GRCh37 |
| NC_000016.8:g.3736148T>A | NCBI36 |
| NG_009873.1:g.138975A>T | |
| NG_009873.2:g.139568A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262367.10:c.3837-792A>T MANE Select | ENSP00000262367.5:n.3837-792A>T | |
| ENST00000638158.1:n.58-551A>T | ||
| ENST00000262367.9:c.3837-792A>T | ENSP00000262367.5:n.3837-792A>T | |
| ENST00000382070.7:c.3723-792A>T | ENSP00000371502.3:n.3723-792A>T | |
| ENST00000570939.2:c.2472-792A>T | ENSP00000461002.2:n.2472-792A>T | |
| ENST00000573517.6:c.143-792A>T | ||
| NM_001079846.1:c.3723-792A>T | NP_001073315.1:n.3723-792A>T | |
| NM_004380.2:c.3837-792A>T | NP_004371.2:n.3837-792A>T | |
| XM_005255124.3:c.3792-792A>T | XP_005255181.1:n.3792-792A>T | |
| XM_005255125.3:c.3420-792A>T | XP_005255182.1:n.3420-792A>T | |
| XM_006720848.2:c.3837-792A>T | XP_006720911.1:n.3837-792A>T | |
| XM_011522380.1:c.3783-792A>T | XP_011520682.1:n.3783-792A>T | |
| XM_011522381.1:c.3084-792A>T | XP_011520683.1:n.3084-792A>T | |
| XM_011522382.1:c.3837-551A>T | XP_011520684.1:n.3837-551A>T | |
| XM_005255124.4:c.3792-792A>T | XP_005255181.1:n.3792-792A>T | |
| XM_005255125.4:c.3420-792A>T | XP_005255182.1:n.3420-792A>T | |
| XM_006720848.3:c.3837-792A>T | XP_006720911.1:n.3837-792A>T | |
| XM_011522381.2:c.3084-792A>T | XP_011520683.1:n.3084-792A>T | |
| XM_011522382.3:c.3837-551A>T | XP_011520684.1:n.3837-551A>T | |
| XM_017022944.1:c.3831-792A>T | XP_016878433.1:n.3831-792A>T | |
| NM_004380.3:c.3837-792A>T MANE Select | NP_004371.2:n.3837-792A>T |