gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001943 (NFE)
Genomes Max Group AF
0.00001973 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.40740473G>T , CM000681.2:g.40740473G>T | GRCh38 |
| NC_000019.9:g.41246378G>T , CM000681.1:g.41246378G>T | GRCh37 |
| NC_000019.8:g.45938218G>T | NCBI36 |
| NG_012970.1:g.28371G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000699488.1:c.2651G>T | ENSP00000514399.1:n.2651G>T | |
| ENST00000699489.1:c.2893G>T | ENSP00000514400.1:n.2893G>T | |
| ENST00000699490.1:c.2457G>T | ENSP00000514401.1:n.2457G>T | |
| ENST00000263370.3:c.*913G>T MANE Select | ENSP00000263370.1:n.*913G>T | |
| ENST00000263370.2:c.*913G>T | ENSP00000263370.1:n.*913G>T | |
| NM_025194.2:c.*913G>T | NP_079470.1:n.*913G>T | |
| XM_006723404.1:c.*543G>T | XP_006723467.1:n.*543G>T | |
| XR_243961.1:n.2916G>T | ||
| XM_017027324.2:c.2182G>T | XP_016882813.1:n.2182G>T | |
| NM_025194.3:c.*913G>T MANE Select | NP_079470.1:n.*913G>T |