gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.0000081 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.138706619T>C , CM000669.2:g.138706619T>C | GRCh38 |
| NC_000007.13:g.138391364T>C , CM000669.1:g.138391364T>C | GRCh37 |
| NC_000007.12:g.138041904T>C | NCBI36 |
| NG_008145.1:g.96578A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310018.7:c.*5A>G MANE Select | ENSP00000308122.2:n.*5A>G | |
| ENST00000478480.2:c.*93A>G | ENSP00000495261.1:n.*93A>G | |
| ENST00000644341.1:c.*5A>G | ENSP00000495642.1:n.*5A>G | |
| ENST00000645515.1:c.*5A>G | ENSP00000496421.1:n.*5A>G | |
| ENST00000647427.1:c.1303A>G | ENSP00000496259.1:n.1303A>G | |
| ENST00000310018.6:c.*5A>G | ENSP00000308122.2:n.*5A>G | |
| ENST00000353492.4:c.*5A>G | ENSP00000253856.6:n.*5A>G | |
| ENST00000393054.5:c.*5A>G | ENSP00000376774.1:n.*5A>G | |
| NM_020632.2:c.*5A>G | NP_065683.2:n.*5A>G | |
| NM_130840.2:c.*5A>G | NP_570855.2:n.*5A>G | |
| NM_130841.2:c.*5A>G | NP_570856.2:n.*5A>G | |
| XM_005250393.1:c.*5A>G | XP_005250450.1:n.*5A>G | |
| XM_005250394.2:c.*5A>G | XP_005250451.1:n.*5A>G | |
| XM_005250394.3:c.*5A>G | XP_005250451.1:n.*5A>G | |
| NM_020632.3:c.*5A>G MANE Select | NP_065683.2:n.*5A>G | |
| NM_130840.3:c.*5A>G | NP_570855.2:n.*5A>G | |
| NM_130841.3:c.*5A>G | NP_570856.2:n.*5A>G |