gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00001666 (NFE)
Exomes Max Group AF
0.00001769 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.169154485A>G , CM000664.2:g.169154485A>G | GRCh38 |
| NC_000002.11:g.170010995A>G , CM000664.1:g.170010995A>G | GRCh37 |
| NC_000002.10:g.169719241A>G | NCBI36 |
| NG_012634.1:g.213128T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000649046.1:c.12270T>C MANE Select | ENSP00000496870.1:p.Asp4090= | |
| ENST00000649153.1:c.3170T>C | ||
| ENST00000650252.1:c.1298T>C | ENSP00000496887.1:p.Ile433Thr | |
| ENST00000263816.7:c.12270T>C | ENSP00000263816.3:p.Asp4090= | |
| NM_004525.2:c.12270T>C | NP_004516.2:p.Asp4090= | |
| XM_011511183.1:c.12141T>C | XP_011509485.1:p.Asp4047= | |
| XM_011511184.1:c.9981T>C | XP_011509486.1:p.Asp3327= | |
| NM_004525.3:c.12270T>C MANE Select | NP_004516.2:p.Asp4090= | |
| XM_011511183.3:c.12141T>C | XP_011509485.1:p.Asp4047= | |
| XM_011511184.2:c.9981T>C | XP_011509486.1:p.Asp3327= |