gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00807641 (NFE)
Genomes Max Group AF
0.00809367 (NFE)
Exomes Max Group AF
0.00804468 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.56910872G>T , CM000666.2:g.56910872G>T | GRCh38 |
| NC_000004.11:g.57777038G>T , CM000666.1:g.57777038G>T | GRCh37 |
| NC_000004.10:g.57471795G>T | NCBI36 |
| NG_029447.1:g.7997G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309042.12:c.234G>T MANE Select | ENSP00000311816.7:p.Pro78= | |
| ENST00000514063.2:c.234G>T | ENSP00000501649.1:p.Pro78= | |
| ENST00000611211.2:c.234G>T | ENSP00000479151.2:p.Pro78= | |
| ENST00000616975.5:c.234G>T | ENSP00000484058.1:p.Pro78= | |
| ENST00000619101.5:c.234G>T | ENSP00000484836.2:p.Pro78= | |
| ENST00000638187.2:c.234G>T | ENSP00000492006.2:p.Pro78= | |
| ENST00000640168.2:c.234G>T | ENSP00000490969.1:p.Pro78= | |
| ENST00000640343.2:c.234G>T | ENSP00000492813.1:p.Pro78= | |
| ENST00000675105.1:c.234G>T | ENSP00000502313.1:p.Pro78= | |
| ENST00000675341.1:c.234G>T | ENSP00000502488.1:p.Pro78= | |
| ENST00000309042.11:c.234G>T | ENSP00000311816.7:p.Pro78= | |
| ENST00000511065.5:n.370G>T | ||
| ENST00000611211.1:c.234G>T | ENSP00000479151.1:p.Pro78= | |
| ENST00000612429.4:c.234G>T | ENSP00000484206.1:p.Pro78= | |
| ENST00000616975.4:c.234G>T | ENSP00000484058.1:p.Pro78= | |
| ENST00000619101.4:c.234G>T | ENSP00000484836.1:p.Pro78= | |
| ENST00000622863.4:c.234G>T | ENSP00000481650.1:p.Pro78= | |
| NM_001193508.1:c.234G>T | NP_001180437.1:p.Pro78= | |
| NM_005612.4:c.234G>T | NP_005603.3:p.Pro78= | |
| XM_005265760.2:c.-175+2659G>T | XP_005265817.1:n.-175+2659G>T | |
| XM_011534401.1:c.234G>T | XP_011532703.1:p.Pro78= | |
| NM_001363453.1:c.234G>T | NP_001350382.1:p.Pro78= | |
| XM_017008527.1:c.234G>T | XP_016864016.1:p.Pro78= | |
| NM_005612.5:c.234G>T MANE Select | NP_005603.3:p.Pro78= | |
| NM_001363453.2:c.234G>T | NP_001350382.1:p.Pro78= |