gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.129453002G>A , CM000668.2:g.129453002G>A | GRCh38 |
| NC_000006.11:g.129774147G>A , CM000668.1:g.129774147G>A | GRCh37 |
| NC_000006.10:g.129815840G>A | NCBI36 |
| NG_008678.1:g.574862G>A , LRG_409:g.574862G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000617695.5:c.6444G>A | ENSP00000481744.2:p.Val2148= | |
| ENST00000618192.5:c.6708G>A | ENSP00000480802.2:p.Val2236= | |
| ENST00000684985.1:n.75G>A | ||
| ENST00000421865.3:c.6444G>A MANE Select | ENSP00000400365.2:p.Val2148= | |
| ENST00000421865.2:c.6444G>A | ENSP00000400365.2:p.Val2148= | |
| ENST00000617695.4:c.6444G>A | ENSP00000481744.1:p.Val2148= | |
| ENST00000618192.4:c.6441G>A | ENSP00000480802.1:p.Val2147= | |
| NM_000426.3:c.6444G>A , LRG_409t1:c.6444G>A | NP_000417.2:p.Val2148= | |
| NM_001079823.1:c.6444G>A | NP_001073291.1:p.Val2148= | |
| XM_005266981.2:c.6708G>A | XP_005267038.1:p.Val2236= | |
| XM_005266982.2:c.6708G>A | XP_005267039.1:p.Val2236= | |
| XM_011535820.1:c.6702G>A | XP_011534122.1:p.Val2234= | |
| XM_005266981.3:c.6708G>A | XP_005267038.1:p.Val2236= | |
| XM_005266982.3:c.6708G>A | XP_005267039.1:p.Val2236= | |
| XM_011535820.2:c.6702G>A | XP_011534122.1:p.Val2234= | |
| XM_017010851.2:c.6714G>A | XP_016866340.1:p.Val2238= | |
| XM_017010852.1:c.4839G>A | XP_016866341.1:p.Val1613= | |
| NM_000426.4:c.6444G>A MANE Select | NP_000417.3:p.Val2148= | |
| NM_001079823.2:c.6444G>A | NP_001073291.2:p.Val2148= |